Variant report

Variant	rs3129875
Chromosome Location	chr6:32407468-32407469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:32406696-32408164	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:32407312-32407984	GM10847	blood:	n/a	n/a
3	GTF2F1	chr6:32407416-32407719	K562	blood:	n/a	n/a
4	TBL1XR1	chr6:32407387-32408902	GM12878	blood:	n/a	n/a
5	STAT5A	chr6:32407280-32408014	GM12878	blood:	n/a	n/a
6	YY1	chr6:32407285-32407848	K562	blood:	n/a	n/a
7	CREB1	chr6:32407311-32407816	HepG2	liver:	n/a	n/a
8	IRF3	chr6:32407337-32407970	GM12878	blood:	n/a	chr6:32407591-32407600
9	RFX5	chr6:32406774-32408932	SK-N-SH	brain:	n/a	chr6:32407552-32407567 chr6:32407553-32407567 chr6:32407590-32407599 chr6:32407555-32407564
10	PML	chr6:32407237-32408041	GM12878	blood:	n/a	n/a
11	NFYB	chr6:32407439-32407674	Hela-S3	cervix:	n/a	chr6:32407587-32407602 chr6:32407588-32407602 chr6:32407589-32407604 chr6:32407590-32407600 chr6:32407587-32407602 chr6:32407591-32407603 chr6:32407589-32407602
12	POU2F2	chr6:32407064-32408098	GM12878	blood:	n/a	chr6:32407610-32407620 chr6:32407609-32407621 chr6:32407609-32407623 chr6:32407611-32407620 chr6:32407610-32407620 chr6:32407106-32407119 chr6:32407612-32407619 chr6:32407608-32407623
13	RUNX3	chr6:32407053-32408160	GM12878	blood:	n/a	chr6:32407949-32407958 chr6:32407949-32407958
14	POLR2A	chr6:32407037-32408115	GM12878	blood:	n/a	n/a
15	CREB1	chr6:32407319-32407823	ECC-1	luminal epithelium:	n/a	n/a
16	NFYB	chr6:32407413-32407721	K562	blood:	n/a	chr6:32407587-32407602 chr6:32407588-32407602 chr6:32407589-32407604 chr6:32407590-32407600 chr6:32407587-32407602 chr6:32407591-32407603 chr6:32407589-32407602
17	ATF2	chr6:32407003-32408585	GM12878	blood:	n/a	n/a
18	CREB1	chr6:32406924-32408091	GM12878	blood:	n/a	n/a
19	CREB1	chr6:32407138-32408026	GM12878	blood:	n/a	n/a
20	SP1	chr6:32407337-32407788	H1-hESC	embryonic stem cell:	n/a	chr6:32407580-32407601
21	CHD2	chr6:32407413-32407775	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr6:32407344-32407750	K562	blood:	n/a	n/a
23	WRNIP1	chr6:32407039-32407965	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:32406505-32414311	GM12878	blood:	n/a	n/a
25	SP1	chr6:32407362-32407851	GM12878	blood:	n/a	chr6:32407580-32407601
26	NFIC	chr6:32407248-32408053	GM12878	blood:	n/a	n/a
27	ZNF143	chr6:32407398-32407800	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:32407224-32408017	GM15510	blood:	n/a	n/a
29	CHD2	chr6:32407366-32408042	GM12878	blood:	n/a	n/a
30	PML	chr6:32406752-32414439	GM12878	blood:	n/a	chr6:32409249-32409257
31	POLR2A	chr6:32406912-32414265	GM12891	blood:	n/a	n/a
32	EP300	chr6:32407368-32407839	GM12878	blood:	n/a	n/a
33	POU2F2	chr6:32407128-32408017	GM12891	blood:	n/a	chr6:32407610-32407620 chr6:32407609-32407621 chr6:32407609-32407623 chr6:32407611-32407620 chr6:32407610-32407620 chr6:32407612-32407619 chr6:32407608-32407623
34	TAF1	chr6:32407462-32407972	GM12891	blood:	n/a	n/a
35	ZNF143	chr6:32407398-32407716	K562	blood:	n/a	n/a
36	TAF1	chr6:32407246-32408066	GM12878	blood:	n/a	n/a
37	RELA	chr6:32407056-32407962	GM19099	blood:	n/a	n/a
38	CREB1	chr6:32407266-32407854	ECC-1	luminal epithelium:	n/a	n/a
39	SP1	chr6:32407367-32407804	H1-hESC	embryonic stem cell:	n/a	chr6:32407580-32407601
40	ZNF143	chr6:32407415-32407684	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr6:32407195-32408020	Raji	blood:	n/a	n/a
42	POLR2A	chr6:32406932-32414352	GM12878	blood:	n/a	n/a
43	ATF2	chr6:32407052-32408123	GM12878	blood:	n/a	n/a
44	YY1	chr6:32407230-32408037	GM12878	blood:	n/a	n/a
45	NFYA	chr6:32407377-32407847	GM12878	blood:	n/a	chr6:32407587-32407602 chr6:32407588-32407602 chr6:32407583-32407601 chr6:32407590-32407600 chr6:32407587-32407602 chr6:32407591-32407603 chr6:32407589-32407602
46	ZNF384	chr6:32406709-32407726	GM12878	blood:	n/a	n/a
47	NFIC	chr6:32406893-32408111	GM12878	blood:	n/a	n/a
48	RUNX3	chr6:32406911-32408168	GM12878	blood:	n/a	chr6:32407949-32407958 chr6:32407949-32407958
49	CREB1	chr6:32407297-32407825	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr6:32407204-32407890	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32407430-32407480	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:32407430-32407480	HCF	heart:	n/a
3	chr6:32407430-32407480	NH-A	brain:	n/a
4	chr6:32407430-32407480	MCF-7	breast:	n/a
5	chr6:32407430-32407480	SK-N-SH_RA	brain:	n/a
6	chr6:32407430-32407480	HIPEpiC	eye:	n/a
7	chr6:32407430-32407480	HEK293	kidney:	embryo
8	chr6:32407430-32407480	HUVEC	blood vessel:	n/a
9	chr6:32407430-32407480	Caco-2	colon:	n/a
10	chr6:32407430-32407480	HEEpiC	esophagus:	n/a
11	chr6:32407430-32407480	NHBE	bronchial:	n/a
12	chr6:32407430-32407480	ECC-1	luminal epithelium:	n/a
13	chr6:32407430-32407480	SKMC	muscle:	n/a
14	chr6:32407430-32407480	AG04449	skin:	fetal
15	chr6:32407430-32407480	AG09309	skin:	n/a
16	chr6:32407430-32407480	PANC-1	pancreas:	n/a
17	chr6:32407430-32407480	GM12878	blood:	n/a
18	chr6:32407430-32407480	NT2-D1	testis:	n/a
19	chr6:32407430-32407480	A549	lung:	n/a
20	chr6:32407430-32407480	GM12892	blood:	n/a
21	chr6:32407430-32407480	PFSK-1	brain:	n/a
22	chr6:32407430-32407480	HRPEpiC	eye:	n/a
23	chr6:32407430-32407480	ovcar-3	ovarian:	n/a
24	chr6:32407430-32407480	HAEpiC	amniotic membrane:	n/a
25	chr6:32407430-32407480	K562	blood:	n/a
26	chr6:32407430-32407480	Jurkat	blood:	n/a
27	chr6:32407430-32407480	HL-60	blood:	n/a
28	chr6:32407430-32407480	MCF10A-Er-Src	breast:	n/a
29	chr6:32407430-32407480	Hela-S3	cervix:	n/a
30	chr6:32407430-32407480	AG10803	skin:	n/a
31	chr6:32407430-32407480	SK-N-MC	brain:	n/a
32	chr6:32407430-32407480	LNCaP	prostate:	n/a
33	chr6:32407430-32407480	RPTEC	kidney:	n/a
34	chr6:32407430-32407480	IMR90	lung:	fetal
35	chr6:32407430-32407480	H1-hESC	embryonic stem cell:	embryo
36	chr6:32407430-32407480	HCT-116	colon:	n/a
37	chr6:32407430-32407480	GM06990	blood:	n/a
38	chr6:32407430-32407480	HepG2	liver:	n/a
39	chr6:32407430-32407480	SAEC	small airway:	n/a
40	chr6:32407430-32407480	HRE	kidney:	n/a
41	chr6:32407430-32407480	T-47D	breast:	n/a
42	chr6:32407430-32407480	BJ	skin:	n/a
43	chr6:32407430-32407480	HCM	heart:	n/a
44	chr6:32407430-32407480	ProgFib	skin:	n/a
45	chr6:32407430-32407480	SK-N-SH	brain:	n/a
46	chr6:32407430-32407480	CMK	blood:	n/a
47	chr6:32407430-32407480	BE2_C	brain:	n/a
48	chr6:32407430-32407480	HRCEpiC	kidney:	n/a
49	chr6:32407430-32407480	HNPCEpiC	eye:	n/a
50	chr6:32407430-32407480	NHDF-neo	bronchial:	n/a

Variant related genes	Relation type
HLA-DRA	TF binding region
HLA-DRA	CpG island

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2395172	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2395174	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2395176	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2395177	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2395179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129844	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129845	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3129846	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3129847	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129848	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129851	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3129853	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129857	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129858	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129859	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3129864	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3129870	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3129872	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3129873	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3129874	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3129876	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129877	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129878	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3129879	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3129881	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3135337	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135339	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135340	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3135342	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135343	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3135392	0.84[ASN][1000 genomes]
rs3135396	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3135398	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4988821	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4988822	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5000563	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9268632	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9268641	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs983561	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
3	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
4	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
5	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
6	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv601972	chr6:31947594-32484368	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	91 gene(s)	inside rSNPs	diseases
8	nsv601975	chr6:31949352-32484368	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv601976	chr6:31949352-32508887	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS 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	93 gene(s)	inside rSNPs	diseases
10	nsv601977	chr6:31949352-32651056	Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription 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	100 gene(s)	inside rSNPs	diseases
11	nsv601980	chr6:31950266-32484368	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv601982	chr6:31951207-32484368	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv601983	chr6:31951367-32484368	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv601984	chr6:31951912-32484368	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	90 gene(s)	inside rSNPs	diseases
15	nsv601999	chr6:31952422-32484368	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	90 gene(s)	inside rSNPs	diseases
16	nsv602000	chr6:31952422-32552416	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
17	nsv602015	chr6:31953467-32481507	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv602016	chr6:31953467-32484368	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
19	nsv602017	chr6:31953467-32505730	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
20	nsv602018	chr6:31953467-32509985	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
21	nsv602019	chr6:31953467-32779803	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
22	nsv602029	chr6:31955572-32484368	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
23	nsv602035	chr6:31959480-32484368	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
24	nsv602036	chr6:31959878-32484368	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
25	nsv602052	chr6:31972034-32481507	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
26	nsv602053	chr6:31972034-32484368	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
27	nsv602054	chr6:31972034-32779803	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	108 gene(s)	inside rSNPs	diseases
28	nsv602086	chr6:31986320-32484368	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
29	nsv1024599	chr6:32007556-32481240	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
30	nsv830630	chr6:32284496-32454243	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv934227	chr6:32371384-32810913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
32	esv1806058	chr6:32371753-32542626	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	esv1807984	chr6:32371753-32542626	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
34	esv1825857	chr6:32371753-32542626	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
35	esv2758044	chr6:32371753-32705434	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	esv2759416	chr6:32371753-32705434	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
37	nsv427753	chr6:32371753-32767352	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
38	nsv428142	chr6:32371753-32767352	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
39	nsv432879	chr6:32374622-32690945	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
40	nsv830631	chr6:32383667-32586115	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
41	esv1793402	chr6:32395420-32485966	Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
42	esv1809041	chr6:32395420-32485966	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	esv1809504	chr6:32395420-32485966	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
44	esv1820528	chr6:32395420-32485966	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	esv1825442	chr6:32395420-32485966	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
46	esv1845184	chr6:32395420-32485966	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
47	esv1827986	chr6:32404878-32458840	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
48	nsv870091	chr6:32405432-32518641	Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
49	nsv602111	chr6:32406342-32433167	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3129875	HLA-DRB5	cis	multi-tissue	Pritchard
rs3129875	HLA-DQA1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32390000-32410000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:32405200-32407600	Weak transcription	Fetal Thymus	thymus
3	chr6:32407000-32407600	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:32407000-32407600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:32407000-32407600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:32407000-32407600	Enhancers	Adipose Nuclei	Adipose
7	chr6:32407000-32407600	Weak transcription	Thymus	Thymus
8	chr6:32407000-32407600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr6:32407200-32407600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:32407200-32407600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:32407200-32407600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:32407200-32407600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:32407200-32407600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:32407200-32407600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
15	chr6:32407200-32407600	Weak transcription	Right Ventricle	heart
16	chr6:32407200-32407600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:32407200-32407600	Enhancers	Small Intestine	intestine
18	chr6:32407200-32407600	Enhancers	Spleen	Spleen
19	chr6:32407200-32407800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:32407200-32408000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr6:32407200-32408000	Active TSS	Colon Smooth Muscle	Colon
22	chr6:32407200-32408600	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:32407200-32408600	Active TSS	Stomach Mucosa	stomach
24	chr6:32407200-32410600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:32407400-32407600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:32407400-32407600	Active TSS	Primary T cells fromperipheralblood	blood
27	chr6:32407400-32407600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:32407400-32407600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:32407400-32407600	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr6:32407400-32407800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:32407400-32408000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr6:32407400-32408200	Active TSS	Primary B cells from cord blood	blood
33	chr6:32407400-32408200	Active TSS	Primary B cells from peripheral blood	blood
34	chr6:32407400-32408200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:32407400-32408400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr6:32407400-32408400	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr6:32407400-32408600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:32407400-32408800	Active TSS	Fetal Lung	lung
39	chr6:32407400-32409200	Active TSS	Brain Substantia Nigra	brain
40	chr6:32407400-32409200	Active TSS	GM12878-XiMat	blood
41	chr6:32407400-32409400	Active TSS	Right Atrium	heart
42	chr6:32407400-32410200	Active TSS	Duodenum Mucosa	Duodenum
43	chr6:32407400-32411000	Active TSS	Rectal Mucosa Donor 29	rectum

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