Variant report

Variant	esv6770
Chromosome Location	chr6:31238482-31323891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1137)
CpG islands
(count:4949)
Chromatin interactive
region (count:37)
LncRNA
region (count:15)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:31272445-31272772	K562	blood:	n/a	n/a
2	ATF1	chr6:31239808-31240131	K562	blood:	n/a	n/a
3	ATF2	chr6:31319512-31321668	GM12878	blood:	n/a	n/a
4	ATF2	chr6:31300449-31301004	GM12878	blood:	n/a	n/a
5	ATF2	chr6:31239651-31240115	GM12878	blood:	n/a	n/a
6	ATF2	chr6:31300411-31301086	GM12878	blood:	n/a	n/a
7	ATF2	chr6:31318444-31319386	GM12878	blood:	n/a	n/a
8	ATF2	chr6:31319422-31321748	GM12878	blood:	n/a	n/a
9	ATF2	chr6:31318632-31319385	GM12878	blood:	n/a	n/a
10	ATF2	chr6:31272379-31272838	GM12878	blood:	n/a	n/a
11	ATF2	chr6:31272219-31272895	GM12878	blood:	n/a	n/a
12	BACH1	chr6:31276089-31276266	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:31239693-31240306	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:31239252-31239443	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr6:31300427-31300985	GM12878	blood:	n/a	n/a
16	BATF	chr6:31241012-31241391	GM12878	blood:	n/a	n/a
17	BATF	chr6:31241031-31241428	GM12878	blood:	n/a	n/a
18	BATF	chr6:31300476-31300903	GM12878	blood:	n/a	n/a
19	BCL11A	chr6:31320393-31320678	GM12878	blood:	n/a	n/a
20	BCL11A	chr6:31318775-31319206	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:31300656-31300925	GM12878	blood:	n/a	n/a
22	BCL11A	chr6:31241052-31241373	GM12878	blood:	n/a	n/a
23	BCL11A	chr6:31241100-31241317	GM12878	blood:	n/a	n/a
24	BCL11A	chr6:31319413-31321023	GM12878	blood:	n/a	n/a
25	BCL3	chr6:31319415-31320898	GM12878	blood:	n/a	n/a
26	BCL3	chr6:31319812-31321116	GM12878	blood:	n/a	n/a
27	BCLAF1	chr6:31239585-31240141	GM12878	blood:	n/a	chr6:31240011-31240020
28	BCLAF1	chr6:31319409-31321119	GM12878	blood:	n/a	n/a
29	BCLAF1	chr6:31318701-31319362	GM12878	blood:	n/a	n/a
30	BCLAF1	chr6:31300404-31300834	GM12878	blood:	n/a	n/a
31	BCLAF1	chr6:31318925-31319357	GM12878	blood:	n/a	n/a
32	BCLAF1	chr6:31322776-31323862	GM12878	blood:	n/a	n/a
33	BCLAF1	chr6:31322541-31323765	GM12878	blood:	n/a	n/a
34	BCLAF1	chr6:31321125-31321669	GM12878	blood:	n/a	chr6:31321139-31321152 chr6:31321455-31321463
35	BCLAF1	chr6:31322218-31322709	GM12878	blood:	n/a	n/a
36	BCLAF1	chr6:31319416-31321907	GM12878	blood:	n/a	chr6:31321139-31321152 chr6:31321455-31321463
37	BCLAF1	chr6:31239341-31240264	GM12878	blood:	n/a	chr6:31240011-31240020
38	BHLHE40	chr6:31318412-31318711	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:31239743-31240181	GM12878	blood:	n/a	n/a
40	BHLHE40	chr6:31239789-31240109	HepG2	liver:	n/a	n/a
41	BHLHE40	chr6:31239841-31240041	K562	blood:	n/a	n/a
42	BHLHE40	chr6:31319623-31320237	GM12878	blood:	n/a	n/a
43	BHLHE40	chr6:31320567-31320928	GM12878	blood:	n/a	n/a
44	BHLHE40	chr6:31238745-31238982	GM12878	blood:	n/a	n/a
45	BRCA1	chr6:31239860-31240081	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr6:31239757-31239881	GM12878	blood:	n/a	n/a
47	BRCA1	chr6:31319716-31319729	GM12878	blood:	n/a	n/a
48	CBX3	chr6:31296167-31296435	K562	blood:	n/a	n/a
49	CBX3	chr6:31272647-31272911	K562	blood:	n/a	n/a
50	CBX3	chr6:31308066-31308395	K562	blood:	n/a	n/a

(count:4949 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31322577-31322627	MCF10A-Er-Src	breast:	n/a
2	chr6:31276504-31276554	AG04450	lung:	fetal
3	chr6:31322996-31323046	GM06990	blood:	n/a
4	chr6:31323856-31323906	HMEC	breast:	n/a
5	chr6:31240047-31240097	HRCEpiC	kidney:	n/a
6	chr6:31272449-31272499	MCF10A-Er-Src	breast:	n/a
7	chr6:31275664-31275714	MCF-7	breast:	n/a
8	chr6:31275767-31275817	NB4	blood:	n/a
9	chr6:31322577-31322627	MCF10A-Er-Src	breast:	n/a
10	chr6:31276504-31276554	AG04450	lung:	fetal
11	chr6:31322996-31323046	GM06990	blood:	n/a
12	chr6:31323856-31323906	HMEC	breast:	n/a
13	chr6:31240047-31240097	HRCEpiC	kidney:	n/a
14	chr6:31272449-31272499	MCF10A-Er-Src	breast:	n/a
15	chr6:31275664-31275714	MCF-7	breast:	n/a
16	chr6:31275767-31275817	NB4	blood:	n/a
17	chr6:31275791-31275841	ProgFib	skin:	n/a
18	chr6:31239247-31239297	U87	brain:	n/a
19	chr6:31240784-31240834	HRE	kidney:	n/a
20	chr6:31240047-31240097	Jurkat	blood:	n/a
21	chr6:31275267-31275317	HMEC	breast:	n/a
22	chr6:31276418-31276468	HMEC	breast:	n/a
23	chr6:31275551-31275601	Jurkat	blood:	n/a
24	chr6:31275664-31275714	HCT-116	colon:	n/a
25	chr6:31240651-31240701	GM19239	blood:	n/a
26	chr6:31322996-31323046	BJ	skin:	n/a
27	chr6:31239402-31239452	CMK	blood:	n/a
28	chr6:31240651-31240701	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:31276667-31276717	HCT-116	colon:	n/a
30	chr6:31322766-31322816	ProgFib	skin:	n/a
31	chr6:31239063-31239113	HRCEpiC	kidney:	n/a
32	chr6:31238803-31238853	NHDF-neo	bronchial:	n/a
33	chr6:31239295-31239345	BJ	skin:	n/a
34	chr6:31276437-31276487	HRE	kidney:	n/a
35	chr6:31323856-31323906	NHDF-neo	bronchial:	n/a
36	chr6:31276212-31276262	Jurkat	blood:	n/a
37	chr6:31275267-31275317	HEK293	kidney:	embryo
38	chr6:31276669-31276719	MCF-7	breast:	n/a
39	chr6:31275791-31275841	Hela-S3	cervix:	n/a
40	chr6:31322766-31322816	Hela-S3	cervix:	n/a
41	chr6:31275791-31275841	GM06990	blood:	n/a
42	chr6:31275718-31275768	HEEpiC	esophagus:	n/a
43	chr6:31240651-31240701	AG10803	skin:	n/a
44	chr6:31275881-31275931	MCF10A-Er-Src	breast:	n/a
45	chr6:31323506-31323556	GM12878	blood:	n/a
46	chr6:31240784-31240834	GM06990	blood:	n/a
47	chr6:31276105-31276155	SK-N-SH	brain:	n/a
48	chr6:31239402-31239452	NB4	blood:	n/a
49	chr6:31239295-31239345	HCT-116	colon:	n/a
50	chr6:31240047-31240097	HPAEpiC	pulmonary alveolar:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31283440..31285991-chr6:31367270..31369843,2	K562	blood:
2	chr6:31233619..31236964-chr6:31319655..31321766,4	MCF-7	breast:
3	chr6:31279746..31282778-chr6:31284004..31286802,3	K562	blood:
4	chr6:31272998..31275186-chr6:31333057..31335314,2	K562	blood:
5	chr6:31296846..31298783-chr6:31302678..31304651,2	K562	blood:
6	chr6:31260319..31263250-chr6:31266330..31267976,2	K562	blood:
7	chr6:31256122..31258941-chr6:31260246..31262615,2	MCF-7	breast:
8	chr6:31296846..31298783-chr6:31302678..31304651,2	K562	blood:
9	chr6:31260192..31262611-chr6:31284045..31286889,2	K562	blood:
10	chr6:31232397..31234509-chr6:31319658..31321454,2	MCF-7	breast:
11	chr6:31282655..31287685-chr6:31288202..31290762,5	K562	blood:
12	chr6:31262379..31263887-chr6:31264452..31266692,2	MCF-7	breast:
13	chr6:31164078..31167331-chr6:31260118..31263696,3	K562	blood:
14	chr6:31260192..31262611-chr6:31284045..31286889,2	K562	blood:
15	chr6:31251382..31252914-chr6:31343854..31345706,2	MCF-7	breast:
16	chr6:29855138..29856405-chr6:31238835..31239948,4	HCT-116	colon:
17	chr6:31274011..31276374-chr6:31277383..31280033,2	K562	blood:
18	chr6:31238404..31240559-chr6:31321762..31324439,3	MCF-7	breast:
19	chr6:31272067..31274682-chr6:31275532..31277366,2	MCF-7	breast:
20	chr6:31262379..31263887-chr6:31264452..31266692,2	MCF-7	breast:
21	chr6:31273049..31275255-chr6:31283813..31285352,2	MCF-7	breast:
22	chr6:31312332..31314314-chr6:31315849..31318317,2	K562	blood:
23	chr6:31164078..31166363-chr6:31260745..31263696,2	K562	blood:
24	chr6:31260315..31262066-chr6:31270612..31272546,2	MCF-7	breast:
25	chr6:31282655..31287685-chr6:31288202..31290762,5	K562	blood:
26	chr6:31238976..31240351-chr6:31324393..31325523,6	HCT-116	colon:
27	chr6:31129596..31132185-chr6:31285768..31288675,2	MCF-7	breast:
28	chr6:31238404..31240559-chr6:31321762..31324439,3	MCF-7	breast:
29	chr6:31274551..31276643-chr6:31277971..31279738,2	MCF-7	breast:
30	chr6:31260319..31263250-chr6:31266330..31267976,2	K562	blood:
31	chr6:29910138..29911769-chr6:31239456..31240978,2	MCF-7	breast:
32	chr6:31273049..31275255-chr6:31283813..31285352,2	MCF-7	breast:
33	chr6:31274576..31277552-chr6:31281409..31285159,3	MCF-7	breast:
34	chr6:31251033..31253649-chr6:31335443..31337577,2	MCF-7	breast:
35	chr6:31260315..31262066-chr6:31270612..31272546,2	MCF-7	breast:
36	chr6:31312332..31314314-chr6:31315849..31318317,2	K562	blood:
37	chr6:31279746..31282778-chr6:31284004..31286802,3	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLA-C-2	chr6:31322410-31322853	NONHSAT108753
2	lnc-HLA-C-3	chr6:31253395-31253655	NONHSAT108749
3	lnc-HLA-C-2	chr6:31322256-31322303	NONHSAT108753
4	lnc-HLA-C-2	chr6:31322256-31322583	NONHSAT108752
5	lnc-HLA-C-3	chr6:31249491-31249789	NONHSAT108749
6	lnc-HLA-C-4	chr6:31276254-31276326	NONHSAT108751
7	lnc-HLA-C-2	chr6:31321649-31322073	NONHSAT108752
8	lnc-HLA-C-1	chr6:31262721-31262790	ENSG00000256166
9	lnc-HLA-C-1	chr6:31261685-31261898	ENSG00000256166
10	lnc-HLA-C-1	chr6:31269249-31269419	ENSG00000256166
11	lnc-HLA-C-2	chr6:31321649-31322073	NONHSAT108753
12	lnc-HLA-C-2	chr6:31322256-31322303	NONHSAT108747
13	lnc-HLA-C-1	chr6:31261992-31262072	ENSG00000256166
14	lnc-HLA-C-4	chr6:31275592-31275824	NONHSAT108751
15	lnc-HLA-C-3	chr6:31249994-31250026	NONHSAT108749

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6891-3p	chr6:31323005-31323025	MIMAT0027683
hsa-miR-6891-5p	chr6:31323074-31323092	MIMAT0027682

No data

Variant related genes	Relation type
USP8P1	TF binding region
ENSG00000271581	TF binding region
ENSG00000229836	TF binding region
HLA-B	TF binding region
WASF5P	TF binding region
RPL3P2	TF binding region
ENSG00000256166	TF binding region
HLA-C	TF binding region
USP8P1	CpG island
ENSG00000271581	CpG island
ENSG00000229836	CpG island
HLA-B	CpG island
WASF5P	CpG island
RPL3P2	CpG island
ENSG00000256166	CpG island
HLA-C	CpG island
ENSG00000231402	chromatin interactions
ENSG00000230994	chromatin interactions
ENSG00000234745	chromatin interactions
ENSG00000206503	chromatin interactions
ENSG00000229836	chromatin interactions
ENSG00000227766	chromatin interactions
ENSG00000206341	chromatin interactions
ENSG00000204525	chromatin interactions
ENSG00000206337	chromatin interactions
ENSG00000228432	chromatin interactions
ENSG00000230521	chromatin interactions
ENSG00000272501	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000271581	chromatin interactions

Extended variants
information (count: 3765 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:3765 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186342584	chr6:31238489-31238490	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs9264642	chr6:31238490-31238491	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9264643	chr6:31238492-31238493	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs41544520	chr6:31238507-31238508	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs386698961	chr6:31238522-31238523	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs113469600	chr6:31238523-31238524	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs9264645	chr6:31238524-31238525	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs386698962	chr6:31238535-31238536	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs17884702	chr6:31238536-31238537	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs41562714	chr6:31238538-31238539	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114343571	chr6:31238565-31238566	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs41549515	chr6:31238589-31238590	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9264647	chr6:31238613-31238614	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs17886924	chr6:31238632-31238633	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs9264648	chr6:31238661-31238662	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs9264649	chr6:31238662-31238663	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs113436248	chr6:31238666-31238667	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs111585150	chr6:31238691-31238692	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs41547523	chr6:31238695-31238696	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs41550819	chr6:31238716-31238717	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9264651	chr6:31238728-31238729	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
22	rs199558601	chr6:31238754-31238755	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs17884428	chr6:31238759-31238760	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
24	rs9264652	chr6:31238762-31238763	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs529374079	chr6:31238782-31238783	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs181531333	chr6:31238783-31238784	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs41561913	chr6:31238793-31238794	Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs41544614	chr6:31238801-31238802	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552098447	chr6:31238807-31238808	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201408372	chr6:31238810-31238811	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs9264653	chr6:31238814-31238815	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
32	rs41544212	chr6:31238815-31238816	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs41561812	chr6:31238822-31238823	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs41555013	chr6:31238842-31238843	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs2308604	chr6:31238851-31238852	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs41555616	chr6:31238858-31238859	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs17413678	chr6:31238866-31238867	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs41552417	chr6:31238874-31238875	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs77935220	chr6:31238886-31238887	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs2308598	chr6:31238889-31238890	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150127748	chr6:31238897-31238898	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs201707949	chr6:31238898-31238899	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs138584390	chr6:31238899-31238900	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs1050686	chr6:31238909-31238910	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
45	rs1050685	chr6:31238910-31238911	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
46	rs281860518	chr6:31238923-31238924	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs141142418	chr6:31238925-31238926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs113350320	chr6:31238926-31238927	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs41552817	chr6:31238943-31238944	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs202134505	chr6:31238954-31238955	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD

Chromatin state (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31235000-31238600	Weak transcription	HSMM	muscle
2	chr6:31235600-31238800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:31235600-31238800	Weak transcription	Fetal Kidney	kidney
4	chr6:31235800-31238600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:31235800-31238600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:31235800-31238600	Weak transcription	Fetal Lung	lung
7	chr6:31236000-31238600	Strong transcription	Fetal Intestine Small	intestine
8	chr6:31236000-31238600	Weak transcription	HSMMtube	muscle
9	chr6:31236200-31238600	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr6:31236200-31238600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:31236200-31238800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
12	chr6:31236200-31238800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:31236200-31239800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:31236400-31238600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:31236400-31239000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
16	chr6:31236400-31239000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
17	chr6:31236400-31239000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
18	chr6:31236400-31239200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:31236600-31238600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:31236600-31239000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr6:31236600-31239000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
22	chr6:31236600-31239800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
23	chr6:31236600-31240400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:31236800-31238600	Strong transcription	Fetal Intestine Large	intestine
25	chr6:31236800-31239000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
26	chr6:31236800-31239000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
27	chr6:31236800-31239000	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
28	chr6:31236800-31239000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
29	chr6:31236800-31239800	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
30	chr6:31237000-31238600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:31237000-31238800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:31237000-31239000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
33	chr6:31237000-31239000	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:31237000-31239000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
35	chr6:31237000-31239200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:31237000-31239800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
37	chr6:31237200-31238800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
38	chr6:31237200-31239000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:31237200-31239000	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
40	chr6:31237400-31239000	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
41	chr6:31237400-31239000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:31237400-31239000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:31237600-31238600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
44	chr6:31237600-31239000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
45	chr6:31237600-31239000	Transcr. at gene 5' and 3'	Lung	lung
46	chr6:31237600-31239000	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr6:31237800-31238600	Weak transcription	Aorta	Aorta
48	chr6:31237800-31238600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:31237800-31238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:31237800-31238800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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