Variant report

Variant	esv3368459
Chromosome Location	chr6:31237898-31323062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1129)
CpG islands
(count:4766)
Chromatin interactive
region (count:37)
LncRNA
region (count:15)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1129 , 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	chr6:31318444-31319386	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	chr6:31319422-31321748	GM12878	blood:	n/a	n/a
7	ATF2	chr6:31319512-31321668	GM12878	blood:	n/a	n/a
8	ATF2	chr6:31272219-31272895	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	chr6:31300411-31301086	GM12878	blood:	n/a	n/a
12	BACH1	chr6:31239693-31240306	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:31239252-31239443	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:31276089-31276266	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr6:31241031-31241428	GM12878	blood:	n/a	n/a
16	BATF	chr6:31300427-31300985	GM12878	blood:	n/a	n/a
17	BATF	chr6:31241012-31241391	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	chr6:31241052-31241373	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:31319413-31321023	GM12878	blood:	n/a	n/a
22	BCL11A	chr6:31241100-31241317	GM12878	blood:	n/a	n/a
23	BCL11A	chr6:31318775-31319206	GM12878	blood:	n/a	n/a
24	BCL11A	chr6:31300656-31300925	GM12878	blood:	n/a	n/a
25	BCL3	chr6:31319812-31321116	GM12878	blood:	n/a	n/a
26	BCL3	chr6:31319415-31320898	GM12878	blood:	n/a	n/a
27	BCLAF1	chr6:31318701-31319362	GM12878	blood:	n/a	n/a
28	BCLAF1	chr6:31318925-31319357	GM12878	blood:	n/a	n/a
29	BCLAF1	chr6:31300404-31300834	GM12878	blood:	n/a	n/a
30	BCLAF1	chr6:31322218-31322709	GM12878	blood:	n/a	n/a
31	BCLAF1	chr6:31239585-31240141	GM12878	blood:	n/a	chr6:31240011-31240020
32	BCLAF1	chr6:31322776-31323862	GM12878	blood:	n/a	n/a
33	BCLAF1	chr6:31319409-31321119	GM12878	blood:	n/a	n/a
34	BCLAF1	chr6:31322541-31323765	GM12878	blood:	n/a	n/a
35	BCLAF1	chr6:31319416-31321907	GM12878	blood:	n/a	chr6:31321139-31321152 chr6:31321455-31321463
36	BCLAF1	chr6:31239341-31240264	GM12878	blood:	n/a	chr6:31240011-31240020
37	BCLAF1	chr6:31321125-31321669	GM12878	blood:	n/a	chr6:31321139-31321152 chr6:31321455-31321463
38	BHLHE40	chr6:31238745-31238982	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:31239789-31240109	HepG2	liver:	n/a	n/a
40	BHLHE40	chr6:31320567-31320928	GM12878	blood:	n/a	n/a
41	BHLHE40	chr6:31239743-31240181	GM12878	blood:	n/a	n/a
42	BHLHE40	chr6:31319623-31320237	GM12878	blood:	n/a	n/a
43	BHLHE40	chr6:31239841-31240041	K562	blood:	n/a	n/a
44	BHLHE40	chr6:31318412-31318711	GM12878	blood:	n/a	n/a
45	BRCA1	chr6:31319716-31319729	GM12878	blood:	n/a	n/a
46	BRCA1	chr6:31239757-31239881	GM12878	blood:	n/a	n/a
47	BRCA1	chr6:31239860-31240081	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr6:31296085-31296471	K562	blood:	n/a	n/a
49	CBX3	chr6:31308066-31308395	K562	blood:	n/a	n/a
50	CBX3	chr6:31272647-31272911	K562	blood:	n/a	n/a

(count:4766 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31238908-31238958	HCF	heart:	n/a
2	chr6:31275875-31275925	CMK	blood:	n/a
3	chr6:31275643-31275693	PFSK-1	brain:	n/a
4	chr6:31242584-31242634	HMEC	breast:	n/a
5	chr6:31322348-31322398	HepG2	liver:	n/a
6	chr6:31250765-31250815	HepG2	liver:	n/a
7	chr6:31276434-31276484	HIPEpiC	eye:	n/a
8	chr6:31276212-31276262	GM06990	blood:	n/a
9	chr6:31238908-31238958	HCF	heart:	n/a
10	chr6:31275875-31275925	CMK	blood:	n/a
11	chr6:31275643-31275693	PFSK-1	brain:	n/a
12	chr6:31242584-31242634	HMEC	breast:	n/a
13	chr6:31322348-31322398	HepG2	liver:	n/a
14	chr6:31250765-31250815	HepG2	liver:	n/a
15	chr6:31276434-31276484	HIPEpiC	eye:	n/a
16	chr6:31276212-31276262	GM06990	blood:	n/a
17	chr6:31275551-31275601	HUVEC	blood vessel:	n/a
18	chr6:31240651-31240701	HCF	heart:	n/a
19	chr6:31275791-31275841	Caco-2	colon:	n/a
20	chr6:31240651-31240701	AG04450	lung:	fetal
21	chr6:31275666-31275716	PANC-1	pancreas:	n/a
22	chr6:31276504-31276554	Hela-S3	cervix:	n/a
23	chr6:31239074-31239124	U87	brain:	n/a
24	chr6:31322121-31322171	GM12878	blood:	n/a
25	chr6:31322996-31323046	PANC-1	pancreas:	n/a
26	chr6:31239005-31239055	HAEpiC	amniotic membrane:	n/a
27	chr6:31275741-31275791	U87	brain:	n/a
28	chr6:31240045-31240095	GM19239	blood:	n/a
29	chr6:31239133-31239183	GM12891	blood:	n/a
30	chr6:31275741-31275791	HEEpiC	esophagus:	n/a
31	chr6:31239411-31239461	HCF	heart:	n/a
32	chr6:31250765-31250815	BJ	skin:	n/a
33	chr6:31239074-31239124	Hela-S3	cervix:	n/a
34	chr6:31239402-31239452	GM12878	blood:	n/a
35	chr6:31239295-31239345	HCF	heart:	n/a
36	chr6:31276797-31276847	SKMC	muscle:	n/a
37	chr6:31239093-31239143	GM12878	blood:	n/a
38	chr6:31322766-31322816	GM19239	blood:	n/a
39	chr6:31240045-31240095	HRCEpiC	kidney:	n/a
40	chr6:31276437-31276487	MCF-7	breast:	n/a
41	chr6:31276669-31276719	NB4	blood:	n/a
42	chr6:31275666-31275716	HAEpiC	amniotic membrane:	n/a
43	chr6:31275664-31275714	NH-A	brain:	n/a
44	chr6:31240050-31240100	LNCaP	prostate:	n/a
45	chr6:31322996-31323046	HNPCEpiC	eye:	n/a
46	chr6:31276504-31276554	GM12891	blood:	n/a
47	chr6:31239063-31239113	T-47D	breast:	n/a
48	chr6:31239175-31239225	Hepatocyte	liver:	n/a
49	chr6:31240047-31240097	HCPEpiC	choroid plexus:	n/a
50	chr6:31240784-31240834	SK-N-SH_RA	brain:	n/a

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

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

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

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

miRNA name	Chromosome Location	mirBase accession
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
ENSG00000206337	chromatin interactions
ENSG00000234745	chromatin interactions
ENSG00000230994	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000206503	chromatin interactions
ENSG00000227766	chromatin interactions
ENSG00000271581	chromatin interactions
ENSG00000230521	chromatin interactions
ENSG00000229836	chromatin interactions
ENSG00000228432	chromatin interactions
ENSG00000231402	chromatin interactions
ENSG00000206341	chromatin interactions
ENSG00000204525	chromatin interactions
ENSG00000272501	chromatin interactions

Extended variants
information (count: 3745 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:3745 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537578402	chr6:31237898-31237899	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs17884362	chr6:31237917-31237918	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116744327	chr6:31237918-31237919	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535226823	chr6:31237922-31237923	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200083169	chr6:31237931-31237932	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539380922	chr6:31237932-31237933	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs281860574	chr6:31237933-31237934	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs67298404	chr6:31237934-31237935	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372975823	chr6:31237942-31237943	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9264623	chr6:31237950-31237951	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9264624	chr6:31237955-31237956	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9264625	chr6:31237960-31237961	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9264626	chr6:31237962-31237963	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9264627	chr6:31237963-31237964	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9264629	chr6:31237975-31237976	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs41556321	chr6:31237987-31237988	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs41546713	chr6:31238001-31238002	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs41558713	chr6:31238002-31238003	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs1131014	chr6:31238009-31238010	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs61759945	chr6:31238021-31238022	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs41540117	chr6:31238027-31238028	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2308622	chr6:31238029-31238030	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs72558149	chr6:31238036-31238037	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs28636630	chr6:31238038-31238039	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs41542914	chr6:31238048-31238049	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs202162097	chr6:31238051-31238052	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs707908	chr6:31238053-31238054	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs375805634	chr6:31238087-31238088	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201434209	chr6:31238088-31238089	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs185215782	chr6:31238109-31238110	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs41547622	chr6:31238125-31238126	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2308618	chr6:31238126-31238127	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs1050317	chr6:31238135-31238136	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs1050320	chr6:31238138-31238139	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
35	rs1050326	chr6:31238147-31238148	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs1050328	chr6:31238155-31238156	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs41562012	chr6:31238179-31238180	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200200386	chr6:31238211-31238212	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs1050716	chr6:31238230-31238231	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs1050344	chr6:31238234-31238235	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs530888210	chr6:31238236-31238237	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148650077	chr6:31238253-31238254	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs1131096	chr6:31238259-31238260	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs41547620	chr6:31238261-31238262	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs369026583	chr6:31238265-31238266	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs41561715	chr6:31238267-31238268	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376365630	chr6:31238268-31238269	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs9264636	chr6:31238297-31238298	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs9264637	chr6:31238308-31238309	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs550820499	chr6:31238312-31238313	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 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:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31233200-31238200	Weak transcription	Stomach Mucosa	stomach
2	chr6:31233200-31238400	Weak transcription	Small Intestine	intestine
3	chr6:31235000-31238600	Weak transcription	HSMM	muscle
4	chr6:31235200-31238400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:31235600-31238200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr6:31235600-31238400	Genic enhancers	Spleen	Spleen
7	chr6:31235600-31238400	Weak transcription	NH-A	brain
8	chr6:31235600-31238800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:31235600-31238800	Weak transcription	Fetal Kidney	kidney
10	chr6:31235800-31238000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:31235800-31238000	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr6:31235800-31238200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:31235800-31238400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:31235800-31238400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:31235800-31238400	Weak transcription	Brain Substantia Nigra	brain
16	chr6:31235800-31238400	Strong transcription	Thymus	Thymus
17	chr6:31235800-31238600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:31235800-31238600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:31235800-31238600	Weak transcription	Fetal Lung	lung
20	chr6:31236000-31238200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:31236000-31238200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:31236000-31238200	Strong transcription	Fetal Muscle Leg	muscle
23	chr6:31236000-31238600	Strong transcription	Fetal Intestine Small	intestine
24	chr6:31236000-31238600	Weak transcription	HSMMtube	muscle
25	chr6:31236200-31238000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:31236200-31238400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:31236200-31238600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr6:31236200-31238600	Weak transcription	Brain Angular Gyrus	brain
29	chr6:31236200-31238800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
30	chr6:31236200-31238800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:31236200-31239800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:31236400-31238200	Strong transcription	NHDF-Ad	bronchial
33	chr6:31236400-31238400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:31236400-31238400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:31236400-31238600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:31236400-31239000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
37	chr6:31236400-31239000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr6:31236400-31239000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
39	chr6:31236400-31239200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:31236600-31238000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:31236600-31238200	Strong transcription	Osteobl	bone
42	chr6:31236600-31238400	Strong transcription	HMEC	breast
43	chr6:31236600-31238600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:31236600-31239000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
45	chr6:31236600-31239000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr6:31236600-31239800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
47	chr6:31236600-31240400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:31236800-31238000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:31236800-31238000	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr6:31236800-31238200	Strong transcription	NHEK	skin

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