Variant report

Variant	esv6835
Chromosome Location	chr6:31239761-31325507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1245)
CpG islands
(count:5676)
Chromatin interactive
region (count:43)
LncRNA
region (count:18)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1245 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	ATF1	chr6:31324888-31325183	K562	blood:	n/a	n/a
4	ATF2	chr6:31300449-31301004	GM12878	blood:	n/a	n/a
5	ATF2	chr6:31318632-31319385	GM12878	blood:	n/a	n/a
6	ATF2	chr6:31272379-31272838	GM12878	blood:	n/a	n/a
7	ATF2	chr6:31300411-31301086	GM12878	blood:	n/a	n/a
8	ATF2	chr6:31272219-31272895	GM12878	blood:	n/a	n/a
9	ATF2	chr6:31319512-31321668	GM12878	blood:	n/a	n/a
10	ATF2	chr6:31239651-31240115	GM12878	blood:	n/a	n/a
11	ATF2	chr6:31318444-31319386	GM12878	blood:	n/a	n/a
12	ATF2	chr6:31319422-31321748	GM12878	blood:	n/a	n/a
13	ATF2	chr6:31324794-31325350	GM12878	blood:	n/a	n/a
14	BACH1	chr6:31324449-31325316	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr6:31239693-31240306	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr6:31276089-31276266	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr6:31300476-31300903	GM12878	blood:	n/a	n/a
18	BATF	chr6:31241031-31241428	GM12878	blood:	n/a	n/a
19	BATF	chr6:31241012-31241391	GM12878	blood:	n/a	n/a
20	BATF	chr6:31300427-31300985	GM12878	blood:	n/a	n/a
21	BATF	chr6:31325045-31325412	GM12878	blood:	n/a	n/a
22	BCL11A	chr6:31318775-31319206	GM12878	blood:	n/a	n/a
23	BCL11A	chr6:31319413-31321023	GM12878	blood:	n/a	n/a
24	BCL11A	chr6:31300656-31300925	GM12878	blood:	n/a	n/a
25	BCL11A	chr6:31320393-31320678	GM12878	blood:	n/a	n/a
26	BCL11A	chr6:31241052-31241373	GM12878	blood:	n/a	n/a
27	BCL11A	chr6:31241100-31241317	GM12878	blood:	n/a	n/a
28	BCL3	chr6:31324702-31325296	GM12878	blood:	n/a	n/a
29	BCL3	chr6:31319415-31320898	GM12878	blood:	n/a	n/a
30	BCL3	chr6:31319812-31321116	GM12878	blood:	n/a	n/a
31	BCLAF1	chr6:31319416-31321907	GM12878	blood:	n/a	chr6:31321139-31321152 chr6:31321455-31321463
32	BCLAF1	chr6:31321125-31321669	GM12878	blood:	n/a	chr6:31321139-31321152 chr6:31321455-31321463
33	BCLAF1	chr6:31239585-31240141	GM12878	blood:	n/a	chr6:31240011-31240020
34	BCLAF1	chr6:31239341-31240264	GM12878	blood:	n/a	chr6:31240011-31240020
35	BCLAF1	chr6:31322218-31322709	GM12878	blood:	n/a	n/a
36	BCLAF1	chr6:31322776-31323862	GM12878	blood:	n/a	n/a
37	BCLAF1	chr6:31322541-31323765	GM12878	blood:	n/a	n/a
38	BCLAF1	chr6:31300404-31300834	GM12878	blood:	n/a	n/a
39	BCLAF1	chr6:31318701-31319362	GM12878	blood:	n/a	n/a
40	BCLAF1	chr6:31318925-31319357	GM12878	blood:	n/a	n/a
41	BCLAF1	chr6:31324267-31325663	GM12878	blood:	n/a	n/a
42	BCLAF1	chr6:31324260-31324641	GM12878	blood:	n/a	n/a
43	BCLAF1	chr6:31324713-31325348	GM12878	blood:	n/a	n/a
44	BCLAF1	chr6:31319409-31321119	GM12878	blood:	n/a	n/a
45	BHLHE40	chr6:31324927-31325138	HepG2	liver:	n/a	n/a
46	BHLHE40	chr6:31324888-31325236	GM12878	blood:	n/a	n/a
47	BHLHE40	chr6:31323948-31324053	GM12878	blood:	n/a	n/a
48	BHLHE40	chr6:31319623-31320237	GM12878	blood:	n/a	n/a
49	BHLHE40	chr6:31318412-31318711	GM12878	blood:	n/a	n/a
50	BHLHE40	chr6:31320567-31320928	GM12878	blood:	n/a	n/a

(count:5676 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31239767-31239817	ovcar-3	ovarian:	n/a
2	chr6:31276664-31276714	HL-60	blood:	n/a
3	chr6:31323760-31323810	PrEC	prostate:	n/a
4	chr6:31239767-31239817	ovcar-3	ovarian:	n/a
5	chr6:31276664-31276714	HL-60	blood:	n/a
6	chr6:31323760-31323810	PrEC	prostate:	n/a
7	chr6:31240047-31240097	ovcar-3	ovarian:	n/a
8	chr6:31276187-31276237	NH-A	brain:	n/a
9	chr6:31324491-31324541	HCT-116	colon:	n/a
10	chr6:31325427-31325477	NHBE	bronchial:	n/a
11	chr6:31324684-31324734	CMK	blood:	n/a
12	chr6:31324319-31324369	CMK	blood:	n/a
13	chr6:31323677-31323727	Caco-2	colon:	n/a
14	chr6:31276187-31276237	HNPCEpiC	eye:	n/a
15	chr6:31325058-31325108	PFSK-1	brain:	n/a
16	chr6:31324916-31324966	GM06990	blood:	n/a
17	chr6:31324972-31325022	MCF-7	breast:	n/a
18	chr6:31325063-31325113	NB4	blood:	n/a
19	chr6:31322914-31322964	HCT-116	colon:	n/a
20	chr6:31242584-31242634	Caco-2	colon:	n/a
21	chr6:31275791-31275841	HepG2	liver:	n/a
22	chr6:31325058-31325108	NH-A	brain:	n/a
23	chr6:31275643-31275693	AG09319	gingival:	n/a
24	chr6:31240784-31240834	SAEC	small airway:	n/a
25	chr6:31251137-31251187	GM06990	blood:	n/a
26	chr6:31276437-31276487	AG04449	skin:	fetal
27	chr6:31276105-31276155	HL-60	blood:	n/a
28	chr6:31324500-31324550	GM12891	blood:	n/a
29	chr6:31240045-31240095	Caco-2	colon:	n/a
30	chr6:31324972-31325022	GM12891	blood:	n/a
31	chr6:31275875-31275925	GM06990	blood:	n/a
32	chr6:31275881-31275931	ProgFib	skin:	n/a
33	chr6:31324972-31325022	K562	blood:	n/a
34	chr6:31275148-31275198	ECC-1	luminal epithelium:	n/a
35	chr6:31324962-31325012	K562	blood:	n/a
36	chr6:31323856-31323906	T-47D	breast:	n/a
37	chr6:31276653-31276703	HEEpiC	esophagus:	n/a
38	chr6:31325455-31325505	HCPEpiC	choroid plexus:	n/a
39	chr6:31325314-31325364	GM19239	blood:	n/a
40	chr6:31324024-31324074	GM06990	blood:	n/a
41	chr6:31240047-31240097	SK-N-SH	brain:	n/a
42	chr6:31275767-31275817	BJ	skin:	n/a
43	chr6:31275875-31275925	HEK293	kidney:	embryo
44	chr6:31325427-31325477	PFSK-1	brain:	n/a
45	chr6:31275643-31275693	GM12891	blood:	n/a
46	chr6:31276146-31276196	SK-N-SH_RA	brain:	n/a
47	chr6:31276797-31276847	BJ	skin:	n/a
48	chr6:31275767-31275817	HCM	heart:	n/a
49	chr6:31324941-31324991	SK-N-MC	brain:	n/a
50	chr6:31324500-31324550	HCPEpiC	choroid plexus:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31272998..31275186-chr6:31333057..31335314,2	K562	blood:
2	chr6:29855116..29856102-chr6:31324046..31324566,2	Hela-S3	cervix:
3	chr6:31283440..31285991-chr6:31367270..31369843,2	K562	blood:
4	chr6:31260319..31263250-chr6:31266330..31267976,2	K562	blood:
5	chr6:31129596..31132185-chr6:31285768..31288675,2	MCF-7	breast:
6	chr6:31272067..31274682-chr6:31275532..31277366,2	MCF-7	breast:
7	chr6:31239600..31240303-chr6:31325089..31325595,2	Hela-S3	cervix:
8	chr6:31296846..31298783-chr6:31302678..31304651,2	K562	blood:
9	chr6:31274011..31276374-chr6:31277383..31280033,2	K562	blood:
10	chr6:31260192..31262611-chr6:31284045..31286889,2	K562	blood:
11	chr6:31251033..31253649-chr6:31335443..31337577,2	MCF-7	breast:
12	chr6:29855138..29856405-chr6:31238835..31239948,4	HCT-116	colon:
13	chr6:31241176..31243692-chr6:31324996..31327759,3	MCF-7	breast:
14	chr6:31282655..31287685-chr6:31288202..31290762,5	K562	blood:
15	chr6:29689852..29692667-chr6:31324164..31326641,2	K562	blood:
16	chr6:31274576..31277552-chr6:31281409..31285159,3	MCF-7	breast:
17	chr6:31296846..31298783-chr6:31302678..31304651,2	K562	blood:
18	chr6:31164078..31167331-chr6:31260118..31263696,3	K562	blood:
19	chr6:31251382..31252914-chr6:31343854..31345706,2	MCF-7	breast:
20	chr6:31233619..31236964-chr6:31319655..31321766,4	MCF-7	breast:
21	chr6:31260319..31263250-chr6:31266330..31267976,2	K562	blood:
22	chr6:31274551..31276643-chr6:31277971..31279738,2	MCF-7	breast:
23	chr6:29910138..29911769-chr6:31239456..31240978,2	MCF-7	breast:
24	chr6:31282655..31287685-chr6:31288202..31290762,5	K562	blood:
25	chr6:31312332..31314314-chr6:31315849..31318317,2	K562	blood:
26	chr6:31164078..31166363-chr6:31260745..31263696,2	K562	blood:
27	chr6:31279746..31282778-chr6:31284004..31286802,3	K562	blood:
28	chr6:31238976..31240351-chr6:31324393..31325523,6	HCT-116	colon:
29	chr6:31238404..31240559-chr6:31321762..31324439,3	MCF-7	breast:
30	chr6:31273049..31275255-chr6:31283813..31285352,2	MCF-7	breast:
31	chr6:31232397..31234509-chr6:31319658..31321454,2	MCF-7	breast:
32	chr6:29759731..29760249-chr6:31324546..31325250,2	HCT-116	colon:
33	chr6:31312332..31314314-chr6:31315849..31318317,2	K562	blood:
34	chr6:31238976..31240351-chr6:31324393..31325523,6	HCT-116	colon:
35	chr6:31238404..31240559-chr6:31321762..31324439,3	MCF-7	breast:
36	chr6:31256122..31258941-chr6:31260246..31262615,2	MCF-7	breast:
37	chr6:31260315..31262066-chr6:31270612..31272546,2	MCF-7	breast:
38	chr6:31260192..31262611-chr6:31284045..31286889,2	K562	blood:
39	chr6:31260315..31262066-chr6:31270612..31272546,2	MCF-7	breast:
40	chr6:31273049..31275255-chr6:31283813..31285352,2	MCF-7	breast:
41	chr6:31262379..31263887-chr6:31264452..31266692,2	MCF-7	breast:
42	chr6:31262379..31263887-chr6:31264452..31266692,2	MCF-7	breast:
43	chr6:31279746..31282778-chr6:31284004..31286802,3	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLA-C-2	chr6:31321649-31322073	NONHSAT108753
2	lnc-MICA-9	chr6:31323945-31324219	NONHSAT108756
3	lnc-HLA-C-2	chr6:31322256-31322303	NONHSAT108747
4	lnc-HLA-C-3	chr6:31249491-31249789	NONHSAT108749
5	lnc-HLA-C-3	chr6:31249994-31250026	NONHSAT108749
6	lnc-HLA-C-1	chr6:31261685-31261898	ENSG00000256166
7	lnc-HLA-C-4	chr6:31276254-31276326	NONHSAT108751
8	lnc-HLA-C-1	chr6:31261992-31262072	ENSG00000256166
9	lnc-HLA-C-2	chr6:31321649-31322073	NONHSAT108752
10	lnc-HLA-C-1	chr6:31262721-31262790	ENSG00000256166
11	lnc-HLA-C-4	chr6:31275592-31275824	NONHSAT108751
12	lnc-HLA-C-2	chr6:31322256-31322303	NONHSAT108753
13	lnc-HLA-C-3	chr6:31253395-31253655	NONHSAT108749
14	lnc-MICA-9	chr6:31324424-31325414	NONHSAT108757
15	lnc-MICA-9	chr6:31324466-31324734	NONHSAT108756
16	lnc-HLA-C-2	chr6:31322410-31322853	NONHSAT108753
17	lnc-HLA-C-2	chr6:31322256-31322583	NONHSAT108752
18	lnc-HLA-C-1	chr6:31269249-31269419	ENSG00000256166

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

No data

Variant related genes	Relation type
ENSG00000229836	TF binding region
RPL3P2	TF binding region
HLA-C	TF binding region
USP8P1	TF binding region
ENSG00000271581	TF binding region
HLA-B	TF binding region
WASF5P	TF binding region
ENSG00000256166	TF binding region
ENSG00000229836	CpG island
RPL3P2	CpG island
HLA-C	CpG island
USP8P1	CpG island
ENSG00000271581	CpG island
HLA-B	CpG island
WASF5P	CpG island
ENSG00000256166	CpG island
ENSG00000206341	chromatin interactions
ENSG00000230994	chromatin interactions
ENSG00000229836	chromatin interactions
ENSG00000271581	chromatin interactions
ENSG00000230521	chromatin interactions
ENSG00000206503	chromatin interactions
ENSG00000181126	chromatin interactions
ENSG00000231402	chromatin interactions
ENSG00000206337	chromatin interactions
ENSG00000225864	chromatin interactions
ENSG00000227766	chromatin interactions
ENSG00000214892	chromatin interactions
ENSG00000204642	chromatin interactions
ENSG00000204525	chromatin interactions
ENSG00000228432	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000272501	chromatin interactions
ENSG00000234745	chromatin interactions

Extended variants
information (count: 3811 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:3811 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41550615	chr6:31239761-31239762	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9264672	chr6:31239766-31239767	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181157909	chr6:31239775-31239776	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs41553415	chr6:31239779-31239780	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs72558133	chr6:31239789-31239790	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs41549413	chr6:31239790-31239791	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1050451	chr6:31239802-31239803	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs370651735	chr6:31239807-31239808	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs553352228	chr6:31239810-31239811	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs2308527	chr6:31239821-31239822	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
11	rs41543119	chr6:31239825-31239826	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs2308525	chr6:31239827-31239828	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs41548414	chr6:31239829-31239830	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs199783871	chr6:31239838-31239839	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs7767581	chr6:31239855-31239856	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs9264674	chr6:31239868-31239869	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
17	rs2074492	chr6:31239869-31239870	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
18	rs541363928	chr6:31239876-31239877	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs200353551	chr6:31239884-31239885	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs2074491	chr6:31239896-31239897	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs115120050	chr6:31239912-31239913	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs555448088	chr6:31239931-31239932	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs563793417	chr6:31239932-31239933	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs2074490	chr6:31239937-31239938	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs552504654	chr6:31239984-31239985	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs6457358	chr6:31239999-31240000	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551344396	chr6:31240009-31240010	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs78848968	chr6:31240010-31240011	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs34488410	chr6:31240013-31240014	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs10684551	chr6:31240015-31240016	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs368255140	chr6:31240033-31240034	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs201049006	chr6:31240034-31240035	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs2524094	chr6:31240041-31240042	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
34	rs2844622	chr6:31240060-31240061	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs544626554	chr6:31240070-31240071	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs281860309	chr6:31240076-31240077	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs35045183	chr6:31240082-31240083	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569663107	chr6:31240088-31240089	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs59057661	chr6:31240091-31240092	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9366775	chr6:31240096-31240097	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs281860308	chr6:31240102-31240103	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs77587539	chr6:31240108-31240109	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs2074489	chr6:31240128-31240129	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
44	rs553330871	chr6:31240143-31240144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs200187301	chr6:31240145-31240146	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs115573554	chr6:31240146-31240147	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs188509578	chr6:31240173-31240174	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs2524093	chr6:31240180-31240181	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs2524092	chr6:31240216-31240217	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs114044171	chr6:31240229-31240230	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	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:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31236200-31239800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:31236600-31239800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr6:31236600-31240400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:31236800-31239800	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
5	chr6:31237000-31239800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
6	chr6:31238200-31240400	Active TSS	Brain Anterior Caudate	brain
7	chr6:31238400-31240200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:31238400-31240400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:31238400-31240400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:31238400-31240400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:31238400-31241000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:31238400-31241000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:31238600-31240400	Active TSS	Small Intestine	intestine
14	chr6:31238600-31240400	Active TSS	HSMM	muscle
15	chr6:31238600-31240400	Active TSS	HSMMtube	muscle
16	chr6:31238600-31240600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:31238600-31240600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:31238600-31240600	Active TSS	Right Ventricle	heart
19	chr6:31238600-31240800	Active TSS	Psoas Muscle	Psoas
20	chr6:31238600-31241000	Active TSS	Right Atrium	heart
21	chr6:31238800-31240000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:31238800-31240000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:31238800-31240000	Active TSS	NHEK	skin
24	chr6:31238800-31240200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:31238800-31240200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:31238800-31240200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:31238800-31240200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:31238800-31240200	Active TSS	Liver	Liver
29	chr6:31238800-31240200	Active TSS	Brain Angular Gyrus	brain
30	chr6:31238800-31240200	Active TSS	Brain Germinal Matrix	brain
31	chr6:31238800-31240200	Active TSS	Fetal Intestine Large	intestine
32	chr6:31238800-31240400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:31238800-31240400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:31238800-31240400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:31238800-31240400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr6:31238800-31240400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:31238800-31240400	Active TSS	Colon Smooth Muscle	Colon
38	chr6:31238800-31240400	Active TSS	Fetal Kidney	kidney
39	chr6:31238800-31240400	Active TSS	Ovary	ovary
40	chr6:31238800-31240400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:31238800-31240400	Active TSS	A549	lung
42	chr6:31238800-31240800	Active TSS	Aorta	Aorta
43	chr6:31238800-31240800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:31239000-31239800	Active TSS	Fetal Muscle Leg	muscle
45	chr6:31239000-31239800	Active TSS	Placenta	Placenta
46	chr6:31239000-31240000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:31239000-31240000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:31239000-31240000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:31239000-31240000	Active TSS	Primary B cells from peripheral blood	blood
50	chr6:31239000-31240000	Active TSS	Primary hematopoietic stem cells	blood

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