Variant report

Variant	rs57722340
Chromosome Location	chr11:86856331-86856332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10898598	0.82[ASN][1000 genomes]
rs11234974	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234975	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234978	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11234979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234988	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235017	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11821269	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11821284	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11824728	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11825950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12271109	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12272942	0.91[AMR][1000 genomes]
rs12282966	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12288001	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17820908	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2156765	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2220472	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28822396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35036190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4315108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs471753	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs471929	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs473996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs477156	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs478368	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs478883	0.94[AMR][1000 genomes]
rs479922	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs482450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs489073	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs493611	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs502191	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs502427	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs504084	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs504628	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs505890	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs509359	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs509485	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs513938	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs515560	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs515623	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs516670	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs519956	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs528794	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs529147	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs531661	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs532442	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs533416	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs535384	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs537137	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs550773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs554757	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs560392	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs561463	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs564384	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56880471	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs570898	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs570946	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs574378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs574417	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs575496	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576532	0.83[ASN][1000 genomes]
rs581079	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58190299	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587063	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs588499	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs589193	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs591818	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs605456	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61904191	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904209	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904238	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904240	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61905593	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs620313	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs621758	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs622473	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs624256	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs625552	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs631756	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs633629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs638848	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs647371	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs649675	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs650170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs652398	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs653419	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs654083	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs654152	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs654451	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs655951	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs662957	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs665234	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs665733	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs666987	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs668448	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs676503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs679690	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs680192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs681642	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7115725	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs949330	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898060	chr11:86822077-86912633	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv420	chr11:86845328-86890111	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv898061	chr11:86850483-86944982	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv468778	chr11:86850483-86974576	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv555708	chr11:86850483-86974576	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
2	chr11:86836800-86877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:86850600-86861600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:86850800-86860400	Weak transcription	Fetal Lung	lung
5	chr11:86850800-86861800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:86851200-86872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86852200-86859200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:86853000-86856800	Enhancers	Primary T cells from cord blood	blood
9	chr11:86853400-86862800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86853400-86866600	Weak transcription	Right Atrium	heart
11	chr11:86853600-86857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:86854400-86856600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:86854600-86856600	Enhancers	Thymus	Thymus
14	chr11:86855000-86860200	Weak transcription	HepG2	liver
15	chr11:86855600-86856600	Weak transcription	Hela-S3	cervix
16	chr11:86855600-86859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:86855600-86860000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:86855600-86860200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:86855600-86862000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:86855600-86865600	Weak transcription	Small Intestine	intestine
21	chr11:86855800-86858800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:86855800-86859200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:86856000-86856400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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