Variant report

Variant	rs3806708
Chromosome Location	chr3:50306249-50306250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr3:50306036-50306819	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr3:50305892-50306753	MCF-7	breast:	n/a	n/a
3	TCF12	chr3:50305972-50306880	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr3:50305632-50307042	ECC-1	luminal epithelium:	n/a	chr3:50306954-50306964
5	ZBTB7A	chr3:50305971-50307182	ECC-1	luminal epithelium:	n/a	n/a
6	TBP	chr3:50306136-50306724	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr3:50306155-50306766	ECC-1	luminal epithelium:	n/a	n/a
8	JUND	chr3:50306169-50306826	MCF-7	breast:	n/a	n/a
9	GTF2F1	chr3:50306113-50306682	Hela-S3	cervix:	n/a	n/a
10	EGR1	chr3:50306080-50306713	HCT-116	colon:	n/a	n/a
11	EP300	chr3:50306246-50306636	Hela-S3	cervix:	n/a	n/a
12	ESR1	chr3:50306235-50306637	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
13	CEBPB	chr3:50305908-50306789	Hela-S3	cervix:	n/a	n/a
14	SMARCB1	chr3:50305961-50309446	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr3:50304153-50308532	IMR90	lung:	n/a	chr3:50306954-50306964
16	POLR2A	chr3:50306157-50306315	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr3:50305942-50307030	MCF-7	breast:	n/a	chr3:50306822-50306832
18	HDAC2	chr3:50306122-50306736	MCF-7	breast:	n/a	n/a
19	EP300	chr3:50305984-50306942	ECC-1	luminal epithelium:	n/a	n/a
20	GATA3	chr3:50306121-50306955	MCF-7	breast:	n/a	chr3:50306822-50306832
21	HDAC2	chr3:50306106-50306732	MCF-7	breast:	n/a	n/a
22	POLR2A	chr3:50305179-50309393	HepG2	liver:	n/a	n/a
23	NFYB	chr3:50306190-50306580	Hela-S3	cervix:	n/a	n/a
24	SP1	chr3:50306249-50306794	HepG2	liver:	n/a	n/a
25	TEAD4	chr3:50306042-50306840	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr3:50305719-50306912	MCF-7	breast:	n/a	n/a
27	NFIC	chr3:50305893-50306818	ECC-1	luminal epithelium:	n/a	n/a
28	TFAP2A	chr3:50305825-50307077	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:50305651-50309364	Hela-S3	cervix:	n/a	n/a
30	EP300	chr3:50306048-50306690	MCF-7	breast:	n/a	n/a
31	RFX5	chr3:50306159-50306720	Hela-S3	cervix:	n/a	n/a
32	MAX	chr3:50305764-50309483	HepG2	liver:	n/a	chr3:50307440-50307450 chr3:50306954-50306964
33	FOXA2	chr3:50306084-50306648	A549	lung:	n/a	n/a
34	ELK4	chr3:50306175-50306701	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr3:50306016-50306866	A549	lung:	n/a	n/a
36	TCF7L2	chr3:50305935-50306752	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr3:50306223-50306545	MCF10A-Er-Src	breast:	n/a	chr3:50306358-50306369
38	ZNF143	chr3:50306065-50306549	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr3:50306186-50306729	MCF-7	breast:	n/a	n/a
40	SP1	chr3:50306153-50306790	A549	lung:	n/a	n/a
41	ESR1	chr3:50306155-50306620	ECC-1	luminal epithelium:	n/a	chr3:50306394-50306409
42	FOS	chr3:50306240-50306558	MCF10A-Er-Src	breast:	n/a	n/a
43	BCL3	chr3:50306231-50306742	A549	lung:	n/a	n/a
44	FOXM1	chr3:50306059-50306722	MCF-7	breast:	n/a	n/a
45	ZKSCAN1	chr3:50306241-50306822	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr3:50306043-50306817	Hela-S3	cervix:	n/a	n/a
47	EGR1	chr3:50306225-50306744	MCF-7	breast:	n/a	n/a
48	MAX	chr3:50306044-50307074	ECC-1	luminal epithelium:	n/a	chr3:50306954-50306964
49	TCF12	chr3:50306159-50306810	MCF-7	breast:	n/a	n/a
50	MAX	chr3:50306164-50306867	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:50281584..50285263-chr3:50304924..50308731,5	MCF-7	breast:
2	chr3:50305661..50309418-chr3:50646590..50649218,4	MCF-7	breast:
3	chr3:50303839..50307896-chr3:50307992..50312285,6	K562	blood:
4	chr3:50305641..50310504-chr3:50314554..50317584,4	K562	blood:
5	chr3:50305234..50312110-chr3:50326257..50332221,8	MCF-7	breast:
6	chr3:50242278..50244597-chr3:50304376..50306670,2	K562	blood:
7	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
8	chr3:50263329..50265945-chr3:50304560..50306258,2	MCF-7	breast:
9	chr3:50303783..50306378-chr3:50387690..50389658,2	MCF-7	breast:
10	chr3:50220929..50223103-chr3:50305394..50307626,2	K562	blood:
11	chr3:50300460..50314689-chr3:50349154..50363682,34	MCF-7	breast:
12	chr3:50263019..50266611-chr3:50304390..50308892,11	MCF-7	breast:
13	chr3:50266814..50271565-chr3:50304984..50308896,4	MCF-7	breast:
14	chr3:50271706..50275857-chr3:50303511..50313889,17	MCF-7	breast:
15	chr3:50304620..50307086-chr3:50310040..50312285,3	K562	blood:

No data

Variant related genes	Relation type
SEMA3B-AS1	TF binding region
SEMA3B	TF binding region
ENSG00000114378	Chromatin interaction
ENSG00000001617	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000188338	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000179564	Chromatin interaction
ENSG00000214706	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000114737	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10510755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12629572	1.00[CEU][hapmap];0.95[GIH][hapmap]
rs12635953	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1989839	1.00[CEU][hapmap];0.95[GIH][hapmap]
rs2071802	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2071803	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs2073498	1.00[ASW][hapmap];0.93[CEU][hapmap];0.90[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2073499	0.93[CEU][hapmap]
rs2097247	0.96[AMR][1000 genomes]
rs2233474	0.93[CEU][hapmap]
rs2236939	0.86[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2236950	1.00[ASW][hapmap]
rs2236967	1.00[ASW][hapmap]
rs2236968	1.00[ASW][hapmap]
rs2236988	1.00[ASW][hapmap]
rs2239801	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2240328	0.82[MEX][hapmap]
rs2282756	1.00[ASW][hapmap]
rs2301639	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs2526392	0.90[GIH][hapmap]
rs2526394	0.90[GIH][hapmap]
rs2526395	0.90[GIH][hapmap]
rs2526396	0.90[GIH][hapmap]
rs2624837	0.90[GIH][hapmap]
rs2624842	0.90[GIH][hapmap]
rs28365992	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3755832	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41291724	1.00[AMR][1000 genomes]
rs4141060	0.93[CEU][hapmap]
rs45536634	0.81[EUR][1000 genomes]
rs57319506	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57462170	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57842657	0.81[AMR][1000 genomes]
rs58051625	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60247651	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6776145	1.00[CEU][hapmap];0.95[GIH][hapmap]
rs762898	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription 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	42 gene(s)	inside rSNPs	diseases
2	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active 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	43 gene(s)	inside rSNPs	diseases
5	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
7	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
11	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
16	nsv1002916	chr3:50187646-50311666	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	nsv536564	chr3:50187646-50311666	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv1014256	chr3:50187646-50339163	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv536565	chr3:50187646-50339163	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
20	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	104 gene(s)	inside rSNPs	diseases
21	nsv590253	chr3:50196418-50337422	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
22	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
24	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
25	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
26	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
27	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS 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
28	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	93 gene(s)	inside rSNPs	diseases
29	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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	82 gene(s)	inside rSNPs	diseases
30	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	83 gene(s)	inside rSNPs	diseases
31	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
32	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
33	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
34	esv3404854	chr3:50305373-50307921	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3806708	TRAIP	cis	parietal	SCAN
rs3806708	SLC25A20	cis	cerebellum	SCAN
rs3806708	ZNF589	cis	cerebellum	SCAN
rs3806708	NEK4	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50300400-50306600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:50300600-50307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:50300800-50306600	Flanking Active TSS	Hela-S3	cervix
4	chr3:50300800-50307400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:50300800-50307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:50301000-50307200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:50301000-50307600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:50301000-50308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:50301200-50307600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:50301600-50307600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:50302400-50307800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr3:50302600-50309600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:50303600-50307800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr3:50303600-50307800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr3:50303800-50306400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr3:50304000-50306400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr3:50304000-50308000	Flanking Active TSS	Colonic Mucosa	Colon
18	chr3:50304000-50308000	Flanking Active TSS	NHLF	lung
19	chr3:50304000-50308600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:50304200-50307800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:50304400-50306400	Enhancers	A549	lung
22	chr3:50304400-50306600	Flanking Active TSS	HepG2	liver
23	chr3:50304400-50307000	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr3:50304400-50307600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:50304400-50307600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr3:50304600-50306600	Enhancers	HMEC	breast
27	chr3:50304600-50307000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:50304600-50307600	Enhancers	Spleen	Spleen
29	chr3:50304800-50306800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr3:50304800-50307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:50304800-50309000	Weak transcription	K562	blood
32	chr3:50305000-50307600	Enhancers	Brain Germinal Matrix	brain
33	chr3:50305000-50307800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:50305200-50306400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr3:50305200-50306400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr3:50305200-50306400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:50305200-50306600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:50305200-50306600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:50305200-50306800	Enhancers	HSMM	muscle
40	chr3:50305200-50307400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:50305200-50309000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:50305400-50306600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:50305400-50306600	Enhancers	Lung	lung
44	chr3:50305400-50307200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr3:50305400-50308000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr3:50305400-50308600	Enhancers	Esophagus	oesophagus
47	chr3:50305600-50306400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr3:50305600-50306400	Enhancers	Fetal Intestine Large	intestine
49	chr3:50305600-50306400	Enhancers	Placenta	Placenta
50	chr3:50305600-50306400	Enhancers	Left Ventricle	heart

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