Variant report

Variant	rs620196
Chromosome Location	chr10:96941732-96941733
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	FOXA2	chr10:96941556-96941921	A549	lung:	n/a	n/a
2	FOXA1	chr10:96941362-96941969	HepG2	liver:	n/a	chr10:96941687-96941702
3	FOXA2	chr10:96941501-96941803	HepG2	liver:	n/a	n/a
4	FOXA1	chr10:96941423-96941807	HepG2	liver:	n/a	chr10:96941687-96941702
5	MAFF	chr10:96941633-96941828	HepG2	liver:	n/a	n/a
6	FOXA1	chr10:96941509-96941926	HepG2	liver:	n/a	chr10:96941687-96941702
7	FOXA1	chr10:96941581-96941791	T-47D	breast:	n/a	chr10:96941687-96941702
8	MAFK	chr10:96941605-96941932	IMR90	lung:	n/a	n/a
9	FOS	chr10:96941551-96941903	HUVEC	blood vessel:	n/a	n/a
10	FOXA1	chr10:96941388-96941966	HepG2	liver:	n/a	chr10:96941687-96941702
11	ARID3A	chr10:96941575-96941858	HepG2	liver:	n/a	n/a
12	MAFK	chr10:96941632-96941832	HepG2	liver:	n/a	n/a
13	MAFK	chr10:96941625-96941869	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:96941439-96941815	T-47D	breast:	n/a	chr10:96941687-96941702

Variant related genes	Relation type
PAWRP1	TF binding region

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10128123	0.86[ASN][1000 genomes]
rs10218877	0.93[ASN][1000 genomes]
rs10509682	0.93[ASN][1000 genomes]
rs10509683	0.86[ASN][1000 genomes]
rs10786186	0.93[ASN][1000 genomes]
rs10786187	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786188	0.93[ASN][1000 genomes]
rs10786189	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786190	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882538	0.82[EUR][1000 genomes]
rs10882540	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882542	0.93[ASN][1000 genomes]
rs10882543	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882544	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10882546	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882551	0.93[ASN][1000 genomes]
rs10882562	0.93[ASN][1000 genomes]
rs10882564	0.93[ASN][1000 genomes]
rs10882565	0.93[ASN][1000 genomes]
rs10882566	0.93[ASN][1000 genomes]
rs10882568	0.86[ASN][1000 genomes]
rs10882569	0.80[ASN][1000 genomes]
rs11188189	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188190	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188192	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188196	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188197	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188200	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188214	0.93[ASN][1000 genomes]
rs11188219	0.93[ASN][1000 genomes]
rs11188223	0.93[ASN][1000 genomes]
rs11188225	0.93[ASN][1000 genomes]
rs11188227	0.86[ASN][1000 genomes]
rs11188228	0.86[ASN][1000 genomes]
rs11188229	0.86[ASN][1000 genomes]
rs11599884	0.86[ASN][1000 genomes]
rs12245722	0.86[ASN][1000 genomes]
rs12261370	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262878	0.86[ASN][1000 genomes]
rs12266386	0.83[ASN][1000 genomes]
rs12354433	0.93[ASN][1000 genomes]
rs12769577	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12769820	0.86[ASN][1000 genomes]
rs12782731	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575930	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872	0.86[ASN][1000 genomes]
rs17451604	0.93[ASN][1000 genomes]
rs17524438	0.86[ASN][1000 genomes]
rs1854029	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1854030	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2449809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449810	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478477	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2478478	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478480	0.93[ASN][1000 genomes]
rs2901829	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34999658	0.93[ASN][1000 genomes]
rs35306243	0.93[ASN][1000 genomes]
rs35999600	0.86[ASN][1000 genomes]
rs4119640	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4532969	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489807	0.93[ASN][1000 genomes]
rs509736	0.93[ASN][1000 genomes]
rs513661	0.93[ASN][1000 genomes]
rs519833	0.93[ASN][1000 genomes]
rs585381	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589801	0.93[ASN][1000 genomes]
rs591157	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591171	0.93[ASN][1000 genomes]
rs592041	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs592055	0.81[AMR][1000 genomes]
rs593207	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs594402	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594448	0.93[ASN][1000 genomes]
rs595420	0.93[ASN][1000 genomes]
rs595478	0.93[ASN][1000 genomes]
rs600929	0.93[ASN][1000 genomes]
rs602941	0.93[ASN][1000 genomes]
rs604022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610579	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610837	0.93[ASN][1000 genomes]
rs611343	0.93[ASN][1000 genomes]
rs611371	0.93[ASN][1000 genomes]
rs611416	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612490	0.93[ASN][1000 genomes]
rs613340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616721	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs621299	0.93[ASN][1000 genomes]
rs626415	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627173	0.93[ASN][1000 genomes]
rs627719	0.93[ASN][1000 genomes]
rs628102	0.93[ASN][1000 genomes]
rs631107	0.87[ASN][1000 genomes]
rs632113	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632361	0.93[ASN][1000 genomes]
rs632979	0.90[ASN][1000 genomes]
rs633345	0.93[ASN][1000 genomes]
rs634269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637465	0.93[ASN][1000 genomes]
rs637724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637939	0.93[ASN][1000 genomes]
rs638895	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644437	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648695	0.93[ASN][1000 genomes]
rs649770	0.90[ASN][1000 genomes]
rs6583979	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6583980	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659949	0.93[ASN][1000 genomes]
rs660026	0.93[ASN][1000 genomes]
rs663473	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664093	0.93[ASN][1000 genomes]
rs666679	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667499	0.90[ASN][1000 genomes]
rs669360	0.93[ASN][1000 genomes]
rs672428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675332	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678165	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679025	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680918	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682477	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685607	0.93[ASN][1000 genomes]
rs688706	0.93[ASN][1000 genomes]
rs689207	0.93[ASN][1000 genomes]
rs701886	0.93[ASN][1000 genomes]
rs7072133	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7079861	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082502	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087492	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087618	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7089303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7094658	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752415	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752416	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752417	0.93[ASN][1000 genomes]
rs7907627	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907827	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921561	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815250	0.93[ASN][1000 genomes]
rs815265	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815266	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815267	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs815268	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815269	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815270	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943313	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943315	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv21432	chr10:96856006-96996043	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1834151	chr10:96925446-96992955	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96932000-96943000	Weak transcription	Pancreas	Pancrea
2	chr10:96936800-96942400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:96937200-96942200	Enhancers	Liver	Liver
4	chr10:96939000-96942200	Weak transcription	Fetal Intestine Large	intestine
5	chr10:96941200-96942000	Enhancers	HepG2	liver
6	chr10:96941400-96941800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:96941400-96941800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:96941400-96941800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:96941400-96942000	Enhancers	Fetal Lung	lung
10	chr10:96941400-96942000	Enhancers	Stomach Mucosa	stomach
11	chr10:96941400-96942000	Enhancers	A549	lung
12	chr10:96941400-96942000	Enhancers	NHDF-Ad	bronchial
13	chr10:96941400-96942400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:96941400-96942800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:96941400-96942800	Enhancers	Fetal Intestine Small	intestine
16	chr10:96941400-96942800	Enhancers	HUVEC	blood vessel
17	chr10:96941600-96941800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr10:96941600-96941800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:96941600-96942200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:96941600-96942400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:96941600-96942600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:96941600-96942800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:96941600-96942800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:96941600-96943000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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