Variant report

Variant	rs2071592
Chromosome Location	chr6:31515340-31515341
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:483)
CpG islands
(count:183)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:31514204-31515545	A549	lung:	n/a	n/a
2	NFIC	chr6:31514979-31515746	GM12878	blood:	n/a	n/a
3	SIN3A	chr6:31514363-31515538	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:31514304-31515734	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr6:31515067-31515590	GM12892	blood:	n/a	n/a
6	GATA2	chr6:31515005-31516404	SH-SY5Y	brain:	n/a	chr6:31515596-31515605 chr6:31515356-31515366 chr6:31515782-31515789
7	SIN3A	chr6:31513957-31515569	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr6:31515025-31515542	Hela-S3	cervix:	n/a	n/a
9	FOS	chr6:31515212-31515503	MCF10A-Er-Src	breast:	n/a	chr6:31515389-31515398
10	SP1	chr6:31515009-31515542	H1-hESC	embryonic stem cell:	n/a	chr6:31515171-31515185 chr6:31515227-31515234 chr6:31515172-31515181 chr6:31515285-31515296 chr6:31515166-31515180
11	CREB1	chr6:31514981-31515612	GM12878	blood:	n/a	n/a
12	GTF2B	chr6:31515187-31515481	K562	blood:	n/a	n/a
13	TAF1	chr6:31515041-31515552	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr6:31515065-31515560	K562	blood:	n/a	n/a
15	TCF12	chr6:31515005-31515624	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr6:31514171-31516364	HUVEC	blood vessel:	n/a	n/a
17	RCOR1	chr6:31515074-31515592	GM12878	blood:	n/a	n/a
18	YY1	chr6:31515047-31515542	GM12891	blood:	n/a	n/a
19	HCFC1	chr6:31514267-31517032	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:31515033-31515627	SK-N-MC	brain:	n/a	n/a
21	TCF12	chr6:31515057-31515501	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:31515041-31515644	GM12891	blood:	n/a	n/a
23	ELF1	chr6:31515049-31515551	K562	blood:	n/a	chr6:31515322-31515335
24	MAX	chr6:31514927-31515604	ECC-1	luminal epithelium:	n/a	n/a
25	ATF2	chr6:31514162-31515523	H1-hESC	embryonic stem cell:	n/a	n/a
26	SP1	chr6:31515005-31515515	GM12878	blood:	n/a	chr6:31515171-31515185 chr6:31515227-31515234 chr6:31515172-31515181 chr6:31515285-31515296 chr6:31515166-31515180
27	HDAC2	chr6:31515056-31515569	K562	blood:	n/a	n/a
28	EBF1	chr6:31514351-31515500	GM12878	blood:	n/a	chr6:31515251-31515264 chr6:31515252-31515262 chr6:31515251-31515262 chr6:31515253-31515262
29	CCNT2	chr6:31515201-31515395	K562	blood:	n/a	n/a
30	CEBPB	chr6:31515181-31515489	K562	blood:	n/a	n/a
31	SMC3	chr6:31514395-31515446	K562	blood:	n/a	n/a
32	POLR2A	chr6:31515162-31515581	Raji	blood:	n/a	n/a
33	MAZ	chr6:31514332-31515574	HepG2	liver:	n/a	chr6:31514843-31514853 chr6:31514653-31514663
34	EP300	chr6:31515010-31515558	HepG2	liver:	n/a	n/a
35	SP4	chr6:31514931-31515558	H1-hESC	embryonic stem cell:	n/a	chr6:31515285-31515296
36	POLR2A	chr6:31514995-31515686	SK-N-SH	brain:	n/a	n/a
37	REST	chr6:31515252-31515593	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr6:31515080-31515621	PBDE	blood:	n/a	n/a
39	CHD2	chr6:31515171-31515546	K562	blood:	n/a	n/a
40	GABPA	chr6:31514975-31515567	Hela-S3	cervix:	n/a	n/a
41	SP1	chr6:31514116-31515620	HCT-116	colon:	n/a	chr6:31514526-31514537 chr6:31515171-31515185 chr6:31514846-31514858 chr6:31514202-31514211 chr6:31514840-31514852 chr6:31514848-31514857 chr6:31514842-31514851 chr6:31515227-31515234 chr6:31514565-31514572 chr6:31514841-31514855 chr6:31514201-31514211 chr6:31514388-31514402 chr6:31515172-31515181 chr6:31515285-31515296 chr6:31515166-31515180 chr6:31514840-31514852
42	YY1	chr6:31515143-31515470	HCT-116	colon:	n/a	n/a
43	RUNX3	chr6:31514281-31515568	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:31514153-31515692	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr6:31515121-31515586	MCF-7	breast:	n/a	n/a
46	NR2F2	chr6:31514167-31516638	K562	blood:	n/a	n/a
47	CEBPB	chr6:31515048-31515584	ECC-1	luminal epithelium:	n/a	n/a
48	CREB1	chr6:31515052-31515627	ECC-1	luminal epithelium:	n/a	n/a
49	ATF1	chr6:31515147-31515549	K562	blood:	n/a	n/a
50	POLR2A	chr6:31515035-31515621	PFSK-1	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31515309-31515359	GM06990	blood:	n/a
2	chr6:31515296-31515346	NH-A	brain:	n/a
3	chr6:31515296-31515346	NB4	blood:	n/a
4	chr6:31515309-31515359	IMR90	lung:	fetal
5	chr6:31515291-31515341	HEEpiC	esophagus:	n/a
6	chr6:31515309-31515359	SK-N-SH_RA	brain:	n/a
7	chr6:31515296-31515346	MCF-7	breast:	n/a
8	chr6:31515291-31515341	NH-A	brain:	n/a
9	chr6:31515291-31515341	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:31515291-31515341	SAEC	small airway:	n/a
11	chr6:31515296-31515346	RPTEC	kidney:	n/a
12	chr6:31515296-31515346	GM12878	blood:	n/a
13	chr6:31515296-31515346	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:31515296-31515346	HepG2	liver:	n/a
15	chr6:31515296-31515346	GM06990	blood:	n/a
16	chr6:31515309-31515359	U87	brain:	n/a
17	chr6:31515296-31515346	Jurkat	blood:	n/a
18	chr6:31515309-31515359	SKMC	muscle:	n/a
19	chr6:31515296-31515346	BE2_C	brain:	n/a
20	chr6:31515291-31515341	A549	lung:	n/a
21	chr6:31515296-31515346	AG04449	skin:	fetal
22	chr6:31515309-31515359	ovcar-3	ovarian:	n/a
23	chr6:31515309-31515359	HRCEpiC	kidney:	n/a
24	chr6:31515296-31515346	HIPEpiC	eye:	n/a
25	chr6:31515309-31515359	HepG2	liver:	n/a
26	chr6:31515309-31515359	PFSK-1	brain:	n/a
27	chr6:31515296-31515346	HCPEpiC	choroid plexus:	n/a
28	chr6:31515296-31515346	PANC-1	pancreas:	n/a
29	chr6:31515291-31515341	PANC-1	pancreas:	n/a
30	chr6:31515296-31515346	SK-N-SH_RA	brain:	n/a
31	chr6:31515291-31515341	GM12878	blood:	n/a
32	chr6:31515291-31515341	NT2-D1	testis:	n/a
33	chr6:31515309-31515359	K562	blood:	n/a
34	chr6:31515291-31515341	HNPCEpiC	eye:	n/a
35	chr6:31515291-31515341	HUVEC	blood vessel:	n/a
36	chr6:31515309-31515359	GM12878	blood:	n/a
37	chr6:31515291-31515341	HEK293	kidney:	embryo
38	chr6:31515309-31515359	HAEpiC	amniotic membrane:	n/a
39	chr6:31515291-31515341	RPTEC	kidney:	n/a
40	chr6:31515296-31515346	AG04450	lung:	fetal
41	chr6:31515309-31515359	HEEpiC	esophagus:	n/a
42	chr6:31515296-31515346	ECC-1	luminal epithelium:	n/a
43	chr6:31515291-31515341	GM12892	blood:	n/a
44	chr6:31515291-31515341	Hela-S3	cervix:	n/a
45	chr6:31515291-31515341	NHDF-neo	bronchial:	n/a
46	chr6:31515296-31515346	BJ	skin:	n/a
47	chr6:31515309-31515359	AoSMC	blood vessel:	n/a
48	chr6:31515309-31515359	Hepatocyte	liver:	n/a
49	chr6:31515309-31515359	NB4	blood:	n/a
50	chr6:31515309-31515359	CMK	blood:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31512487..31517874-chr6:31628889..31634381,12	K562	blood:
2	chr6:31464396..31467286-chr6:31513352..31515783,2	MCF-7	breast:
3	chr6:31461866..31464235-chr6:31513189..31515982,2	K562	blood:
4	chr6:31507451..31516055-chr6:31617949..31624791,11	MCF-7	breast:
5	chr6:31511781..31517209-chr6:31545410..31553496,14	K562	blood:
6	chr6:31515338..31517420-chr6:31583462..31585517,2	MCF-7	breast:
7	chr6:31513206..31515445-chr6:31647940..31649568,2	MCF-7	breast:
8	chr6:31514907..31516609-chr6:31553664..31555666,2	MCF-7	breast:
9	chr6:31513724..31516419-chr6:31731123..31734011,2	K562	blood:
10	chr6:31462227..31464927-chr6:31513555..31516059,3	MCF-7	breast:
11	chr6:31465192..31467276-chr6:31514353..31517870,3	K562	blood:
12	chr6:31460255..31464524-chr6:31513189..31516444,5	K562	blood:
13	chr6:31512960..31516876-chr6:31549415..31551752,3	MCF-7	breast:
14	chr6:31515059..31516873-chr6:31633066..31634969,2	MCF-7	breast:
15	chr6:31514718..31515590-chr6:31587831..31588805,2	K562	blood:
16	chr6:31512174..31516924-chr6:31632110..31634699,4	MCF-7	breast:
17	chr6:31512553..31516955-chr6:31618753..31622292,7	K562	blood:
18	chr6:31511829..31516829-chr6:31586761..31590434,8	MCF-7	breast:
19	chr6:31513113..31516557-chr6:31559255..31561759,3	K562	blood:
20	chr6:31513116..31516827-chr6:31558104..31561639,4	K562	blood:
21	chr6:27777740..27778353-chr6:31515027..31515578,2	Hela-S3	cervix:
22	chr6:31513053..31519210-chr6:31585987..31595406,29	K562	blood:
23	chr6:31513771..31519008-chr6:31582734..31585702,4	K562	blood:
24	chr6:31460672..31463218-chr6:31514855..31517423,2	MCF-7	breast:
25	chr6:31465192..31467253-chr6:31513874..31515853,2	K562	blood:
26	chr6:31514420..31518271-chr6:31830053..31832008,3	K562	blood:
27	chr6:31513726..31516111-chr6:31705969..31708009,2	MCF-7	breast:
28	chr6:31507406..31516955-chr6:31615847..31623354,26	K562	blood:
29	chr6:31513237..31516038-chr6:31696007..31697508,2	K562	blood:
30	chr6:31513245..31516542-chr6:31782394..31785632,3	MCF-7	breast:
31	chr6:31514014..31516004-chr6:31637492..31640233,2	MCF-7	breast:
32	chr6:31512646..31517552-chr6:31586243..31590655,20	K562	blood:
33	chr6:31513697..31516891-chr6:31590663..31594798,6	K562	blood:
34	chr6:31513816..31516540-chr6:31705988..31708603,3	K562	blood:
35	chr6:31513842..31516738-chr6:31801353..31804200,3	K562	blood:
36	chr6:31514283..31516079-chr6:31548550..31550492,2	MCF-7	breast:
37	chr6:31512487..31516692-chr6:31630820..31634965,11	K562	blood:
38	chr6:31514041..31516822-chr6:31607895..31609599,2	K562	blood:
39	chr6:31513234..31515924-chr6:31582326..31585070,2	K562	blood:

No data

Variant related genes	Relation type
ATP6V1G2	TF binding region
NFKBIL1	TF binding region
ATP6V1G2-DDX39B	TF binding region
NFKBIL1	CpG island
ATP6V1G2-DDX39B	CpG island
ATP6V1G2	CpG island
ENSG00000240053	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000204475	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000228727	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204472	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000201680	Chromatin interaction
ENSG00000204482	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000227507	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000235663	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000200816	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1041981	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1800683	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071591	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3093949	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3093974	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3093987	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3094594	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3130059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130629	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3131641	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3132455	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs909253	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
5	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
6	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
8	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
10	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
12	nsv1018463	chr6:31337336-31525275	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
13	nsv538189	chr6:31337336-31525275	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
14	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
15	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
16	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
17	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
18	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
19	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
20	nsv884417	chr6:31515078-31525354	Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2071592	BAT1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31510600-31515800	Weak transcription	Gastric	stomach
2	chr6:31510800-31515400	Weak transcription	Lung	lung
3	chr6:31513200-31515800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:31513400-31515800	Active TSS	Brain Angular Gyrus	brain
5	chr6:31513600-31515800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:31513600-31515800	Active TSS	NHDF-Ad	bronchial
7	chr6:31513600-31516000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:31513600-31516000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:31513600-31516200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:31513800-31515600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:31514000-31515600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:31514000-31515800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:31514000-31515800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:31514000-31515800	Active TSS	Fetal Intestine Small	intestine
15	chr6:31514000-31515800	Active TSS	Fetal Lung	lung
16	chr6:31514000-31515800	Active TSS	HSMMtube	muscle
17	chr6:31514000-31516000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:31514000-31516000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:31514000-31516000	Flanking Active TSS	Fetal Thymus	thymus
20	chr6:31514000-31516400	Active TSS	Fetal Kidney	kidney
21	chr6:31514000-31516600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:31514200-31515600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:31514200-31515800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:31514200-31515800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:31514200-31515800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:31514200-31515800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:31514200-31515800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:31514200-31515800	Active TSS	Fetal Brain Female	brain
29	chr6:31514200-31515800	Active TSS	Ovary	ovary
30	chr6:31514200-31516000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:31514200-31516000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:31514200-31516200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr6:31514200-31516200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:31514400-31515600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:31514400-31515600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr6:31514400-31515800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:31514400-31515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:31514400-31515800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:31514400-31515800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:31514400-31515800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr6:31514400-31515800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr6:31514400-31515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:31514400-31515800	Active TSS	GM12878-XiMat	blood
44	chr6:31514400-31516200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr6:31514600-31515400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:31514600-31515400	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:31514600-31515400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:31514600-31515400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:31514600-31515600	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr6:31514600-31515600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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