Variant report

Variant	rs57653937
Chromosome Location	chr8:95700403-95700404
allele	A/G
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	KAP1	chr8:95699610-95700434	K562	blood:	n/a	n/a
2	SETDB1	chr8:95700111-95700502	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000241003	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10091213	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10110080	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1046155	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956925	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11785	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542239	0.89[ASN][1000 genomes]
rs12543234	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543253	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12543258	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543404	0.88[ASN][1000 genomes]
rs12543514	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544778	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12545296	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12545684	0.88[ASN][1000 genomes]
rs12545776	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548165	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550043	0.88[ASN][1000 genomes]
rs12675372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676890	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677519	0.89[ASN][1000 genomes]
rs12677807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12678311	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12678709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12678729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13248437	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13249838	0.80[ASN][1000 genomes]
rs13254184	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13260827	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13266255	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13267007	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1365203	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365205	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549466	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs15710	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs15726	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17717161	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2033074	0.87[ASN][1000 genomes]
rs2033075	0.87[ASN][1000 genomes]
rs2052718	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052719	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052720	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052721	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2068005	0.88[ASN][1000 genomes]
rs2241504	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2241505	0.87[ASN][1000 genomes]
rs2288260	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303453	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2554396	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2554397	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2554400	0.95[AFR][1000 genomes]
rs2722874	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2722876	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2722883	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2722884	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28659779	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34733016	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3864655	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4008177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348460	0.87[ASN][1000 genomes]
rs4481558	0.88[ASN][1000 genomes]
rs4639480	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55865498	0.88[ASN][1000 genomes]
rs55890917	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58422141	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59515090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59557867	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60573557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523459	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471457	0.89[ASN][1000 genomes]
rs6471460	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471461	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471462	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471464	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471465	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471466	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471467	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471468	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471470	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471471	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471472	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471473	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471474	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471475	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471478	0.85[ASN][1000 genomes]
rs66477120	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66850135	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67900173	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6992360	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009161	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7010722	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7016360	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017996	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72676924	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72676929	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72676935	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7387164	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388010	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7462846	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464856	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813107	0.83[ASN][1000 genomes]
rs7813657	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814803	0.89[ASN][1000 genomes]
rs7815719	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7816188	0.80[ASN][1000 genomes]
rs7816645	0.80[ASN][1000 genomes]
rs7820240	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7820441	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827727	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829467	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832771	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833299	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7833363	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836949	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840284	0.81[ASN][1000 genomes]
rs7842246	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842400	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842716	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643347	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9692638	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:95656400-95701000	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
7	chr8:95657200-95701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:95681400-95704400	Weak transcription	Gastric	stomach
11	chr8:95690200-95701000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr8:95690200-95701200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
15	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:95691800-95701800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:95692000-95701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:95693600-95701200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr8:95695000-95712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:95696800-95700800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:95697200-95704400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:95697200-95712200	Weak transcription	Esophagus	oesophagus
23	chr8:95698000-95704400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:95698600-95704400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:95698600-95704400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:95698600-95714200	Weak transcription	Fetal Kidney	kidney
27	chr8:95698800-95700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:95698800-95700600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:95699200-95701000	Strong transcription	Placenta	Placenta
30	chr8:95699200-95701200	Strong transcription	HMEC	breast
31	chr8:95699400-95700600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:95699600-95700800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:95700000-95701000	Strong transcription	NHEK	skin
34	chr8:95700200-95701000	Strong transcription	Fetal Intestine Large	intestine
35	chr8:95700200-95701000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr8:95700400-95700800	Strong transcription	Pancreas	Pancrea
37	chr8:95700400-95701000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:95700400-95701400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr8:95700400-95719800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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