Variant report

Variant	rs10794537
Chromosome Location	chr4:980971-980972
allele	G/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	CCNT2	chr4:980603-981400	K562	blood:	n/a	n/a
2	USF1	chr4:980584-981014	A549	lung:	n/a	chr4:980783-980794
3	ZBTB7A	chr4:980553-981416	K562	blood:	n/a	chr4:980749-980758 chr4:981081-981090
4	HDAC2	chr4:980587-981103	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:980324-982493	HepG2	liver:	n/a	n/a
6	MXI1	chr4:979804-981700	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr4:980481-981201	K562	blood:	n/a	n/a
8	POLR2A	chr4:980799-981022	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:980940-981175	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:980311-981111	PFSK-1	brain:	n/a	n/a
11	CTCF	chr4:980892-981379	MCF-7	breast:	n/a	chr4:981220-981233 chr4:981123-981136 chr4:981218-981236
12	EP300	chr4:980839-981131	K562	blood:	n/a	n/a
13	NRF1	chr4:980672-981155	GM12878	blood:	n/a	n/a
14	SIN3A	chr4:980373-981156	GM12878	blood:	n/a	n/a
15	ZC3H11A	chr4:980834-981302	K562	blood:	n/a	n/a
16	CTCF	chr4:980963-981416	MCF-7	breast:	n/a	chr4:981220-981233 chr4:981123-981136 chr4:981218-981236
17	YY1	chr4:980499-981222	K562	blood:	n/a	n/a
18	ETS1	chr4:980688-981357	K562	blood:	n/a	chr4:981314-981327 chr4:981155-981166 chr4:981157-981168
19	CTCF	chr4:980960-981110	HEEpiC	esophagus:	n/a	n/a
20	POLR2A	chr4:980521-982411	HepG2	liver:	n/a	n/a
21	RAD21	chr4:980801-981396	HepG2	liver:	n/a	chr4:981216-981235 chr4:981220-981230 chr4:981218-981230 chr4:981219-981232
22	HDAC2	chr4:980555-981159	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr4:980946-981401	H1-hESC	embryonic stem cell:	n/a	chr4:981216-981235 chr4:981220-981230 chr4:981218-981230 chr4:981219-981232
24	POLR2A	chr4:980629-981097	PANC-1	pancreas:	n/a	n/a
25	CTCF	chr4:980920-981070	WI-38	lung:	n/a	n/a
26	POLR2A	chr4:980485-981709	MCF-7	breast:	n/a	n/a
27	MXI1	chr4:980266-981151	K562	blood:	n/a	n/a
28	RAD21	chr4:980784-981333	K562	blood:	n/a	chr4:981216-981235 chr4:981220-981230 chr4:981218-981230 chr4:981219-981232
29	JUND	chr4:980777-981052	A549	lung:	n/a	n/a
30	CTCF	chr4:980952-981356	NHEK	skin:	n/a	chr4:981220-981233 chr4:981123-981136 chr4:981218-981236
31	SP1	chr4:980562-981337	GM12878	blood:	n/a	chr4:981152-981164 chr4:981154-981163 chr4:980667-980681 chr4:981152-981164 chr4:980732-980742 chr4:981153-981162
32	POLR2A	chr4:980490-981410	K562	blood:	n/a	n/a
33	POLR2A	chr4:980367-981318	PBDE	blood:	n/a	n/a
34	POLR2A	chr4:980426-981095	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:980534-981153	GM12878	blood:	n/a	n/a
36	USF1	chr4:980586-981040	SK-N-SH	brain:	n/a	chr4:980783-980794
37	USF1	chr4:980666-981027	GM12878	blood:	n/a	chr4:980783-980794
38	TCF7L2	chr4:980761-981534	HCT-116	colon:	n/a	n/a
39	POLR2A	chr4:980495-981083	GM12878	blood:	n/a	n/a
40	CTCF	chr4:980954-981254	A549	lung:	n/a	chr4:981220-981233 chr4:981123-981136 chr4:981218-981236
41	EGR1	chr4:980574-981428	ECC-1	luminal epithelium:	n/a	chr4:981040-981050 chr4:980748-980763 chr4:980749-980762 chr4:981154-981164
42	RUNX3	chr4:980593-981397	GM12878	blood:	n/a	n/a
43	CTCF	chr4:980918-981357	GM12892	blood:	n/a	chr4:981220-981233 chr4:981123-981136 chr4:981218-981236
44	EGR1	chr4:980395-981636	HCT-116	colon:	n/a	chr4:981040-981050 chr4:980748-980763 chr4:980749-980762 chr4:981154-981164
45	ATF3	chr4:980701-981003	HepG2	liver:	n/a	n/a
46	MXI1	chr4:980668-981446	HepG2	liver:	n/a	n/a
47	ZNF143	chr4:980516-981360	GM12878	blood:	n/a	n/a
48	CHD2	chr4:980558-982211	HepG2	liver:	n/a	n/a
49	SMC3	chr4:980932-981097	HepG2	liver:	n/a	n/a
50	USF1	chr4:980574-980999	H1-hESC	embryonic stem cell:	n/a	chr4:980783-980794

No.	Distal block	Cell Line	Cell type
1	chr4:953245..957937-chr4:979324..982672,7	MCF-7	breast:
2	chr4:923619..928083-chr4:975582..982523,10	K562	blood:
3	chr4:923541..927987-chr4:977936..983574,14	MCF-7	breast:
4	chr4:665677..668201-chr4:979135..981223,2	K562	blood:
5	chr16:3030298..3031159-chr4:980166..981148,2	NB4	blood:
6	chr4:923770..927807-chr4:980855..982632,3	MCF-7	breast:
7	chr4:773572..776391-chr4:979959..982266,2	MCF-7	breast:
8	chr4:665710..668196-chr4:979815..981337,2	MCF-7	breast:
9	chr4:960856..970258-chr4:974782..984618,21	MCF-7	breast:
10	chr4:941622..944191-chr4:979532..981778,3	MCF-7	breast:
11	chr4:784755..787732-chr4:979538..982069,4	MCF-7	breast:

Variant related genes	Relation type
IDUA	TF binding region
DGKQ	TF binding region
ENSG00000168993	Chromatin interaction
ENSG00000178950	Chromatin interaction
ENSG00000127564	Chromatin interaction
ENSG00000127419	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000145214	Chromatin interaction
ENSG00000215375	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3733347	0.83[EUR][1000 genomes]
rs4690197	0.85[EUR][1000 genomes]
rs4690230	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4690325	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv878261	chr4:756686-1047794	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv878263	chr4:771587-1047794	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv432547	chr4:782301-1053930	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv878264	chr4:790757-1047794	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv878265	chr4:793929-1024752	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv878266	chr4:793929-1058358	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv878269	chr4:795890-1024752	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv878270	chr4:798962-1024752	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv469998	chr4:809593-1087531	Strong transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv878272	chr4:809787-1058358	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv1008352	chr4:813393-1035416	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
19	nsv878276	chr4:813393-1047794	Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
20	nsv878277	chr4:813393-1087531	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv1012895	chr4:827866-1054874	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
22	nsv536979	chr4:827866-1054874	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
23	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
24	nsv878280	chr4:828148-1052488	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
25	nsv878283	chr4:862156-1052488	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
26	nsv878285	chr4:891098-1052488	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
27	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
28	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
29	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
30	nsv870410	chr4:927839-1090974	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
31	nsv878286	chr4:928684-994414	Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	nsv878287	chr4:928684-1001447	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
33	esv1838544	chr4:939883-1004463	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv878288	chr4:939883-1019011	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
35	nsv878289	chr4:939883-1047794	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
36	nsv878290	chr4:939883-1052488	Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
37	nsv878291	chr4:939883-1058358	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
38	nsv878292	chr4:939883-1087531	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
39	nsv878293	chr4:941518-1047794	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
40	nsv878294	chr4:941518-1052488	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
41	nsv878295	chr4:941518-1064116	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
42	esv1846290	chr4:941518-1081307	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
43	nsv461149	chr4:942006-1019011	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
44	nsv593226	chr4:942006-1019011	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
45	nsv878296	chr4:942006-1019011	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
46	nsv878297	chr4:942006-1024752	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
47	esv1799097	chr4:944191-1053162	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
48	nsv878299	chr4:946974-1009420	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
49	nsv878298	chr4:946974-1011115	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
50	nsv878300	chr4:946974-1024752	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10794537	SLC26A1	cis	Thyroid	GTEx
rs10794537	SLC26A1	cis	Skin Sun Exposed Lower leg	GTEx
rs10794537	SLC26A1	cis	Artery Aorta	GTEx
rs10794537	DGKQ	Cis_1M	lymphoblastoid	RTeQTL
rs10794537	SLC26A1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:978600-981600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:979800-981200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:979800-981400	Active TSS	Aorta	Aorta
4	chr4:979800-981600	Flanking Active TSS	Liver	Liver
5	chr4:979800-981800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr4:979800-982000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr4:980000-981000	Active TSS	Fetal Muscle Trunk	muscle
8	chr4:980000-981200	Active TSS	Psoas Muscle	Psoas
9	chr4:980000-981200	Active TSS	HepG2	liver
10	chr4:980000-981200	Active TSS	NHLF	lung
11	chr4:980000-981400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:980000-981400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:980000-981400	Active TSS	Fetal Kidney	kidney
14	chr4:980000-981400	Active TSS	Ovary	ovary
15	chr4:980000-981800	Active TSS	A549	lung
16	chr4:980200-981000	Active TSS	Placenta	Placenta
17	chr4:980200-981000	Active TSS	Right Ventricle	heart
18	chr4:980200-981200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:980200-981200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:980200-981200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:980200-981200	Active TSS	Fetal Brain Female	brain
22	chr4:980200-981200	Active TSS	Fetal Lung	lung
23	chr4:980200-981200	Active TSS	HMEC	breast
24	chr4:980200-981200	Active TSS	K562	blood
25	chr4:980200-981200	Active TSS	NHDF-Ad	bronchial
26	chr4:980200-981400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:980200-981400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:980200-981400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:980200-981400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:980200-981400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:980200-981400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:980200-981400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr4:980200-981400	Active TSS	Right Atrium	heart
34	chr4:980200-981600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:980200-981600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:980400-981000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr4:980400-981000	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr4:980400-981000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:980400-981000	Active TSS	Brain Germinal Matrix	brain
40	chr4:980400-981000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr4:980400-981200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr4:980400-981200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:980400-981200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:980400-981200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr4:980400-981200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:980400-981200	Active TSS	Esophagus	oesophagus
47	chr4:980400-981200	Active TSS	Rectal Smooth Muscle	rectum
48	chr4:980400-981200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr4:980400-981200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:980400-981200	Active TSS	Spleen	Spleen

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