Variant report

Variant	rs4934501
Chromosome Location	chr10:91555507-91555508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 206 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:203)

rs_ID	r²[population]
rs10082422	0.83[ASN][1000 genomes]
rs10430622	0.83[ASN][1000 genomes]
rs10430645	0.83[ASN][1000 genomes]
rs10430646	0.83[ASN][1000 genomes]
rs10430647	0.83[ASN][1000 genomes]
rs10509579	0.86[ASN][1000 genomes]
rs1062465	0.86[ASN][1000 genomes]
rs10748527	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785893	0.82[ASN][1000 genomes]
rs10785894	0.82[ASN][1000 genomes]
rs10785895	0.82[ASN][1000 genomes]
rs10785896	0.82[ASN][1000 genomes]
rs10785899	0.83[ASN][1000 genomes]
rs10785901	0.88[ASN][1000 genomes]
rs10785902	0.88[ASN][1000 genomes]
rs10785903	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10785904	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785905	0.96[EUR][1000 genomes]
rs10785906	0.96[EUR][1000 genomes]
rs10785907	0.90[EUR][1000 genomes]
rs10881615	0.82[ASN][1000 genomes]
rs10881616	0.82[ASN][1000 genomes]
rs10881618	0.82[ASN][1000 genomes]
rs10881619	0.82[ASN][1000 genomes]
rs10881621	0.83[ASN][1000 genomes]
rs10881623	0.83[ASN][1000 genomes]
rs10881626	0.83[ASN][1000 genomes]
rs10881627	0.82[ASN][1000 genomes]
rs10881628	0.83[ASN][1000 genomes]
rs10881630	0.80[ASN][1000 genomes]
rs10881631	0.83[ASN][1000 genomes]
rs10881633	0.82[ASN][1000 genomes]
rs10881634	0.83[ASN][1000 genomes]
rs10881635	0.83[ASN][1000 genomes]
rs10881636	0.83[ASN][1000 genomes]
rs10881637	0.83[ASN][1000 genomes]
rs10881638	0.83[ASN][1000 genomes]
rs10881639	0.85[ASN][1000 genomes]
rs10881640	0.86[ASN][1000 genomes]
rs10881643	0.86[ASN][1000 genomes]
rs10881644	0.86[ASN][1000 genomes]
rs10881645	0.86[ASN][1000 genomes]
rs10881646	0.86[ASN][1000 genomes]
rs10881647	0.83[ASN][1000 genomes]
rs10881648	0.88[ASN][1000 genomes]
rs10881649	0.88[ASN][1000 genomes]
rs10881650	0.88[ASN][1000 genomes]
rs10881651	0.88[ASN][1000 genomes]
rs10881654	0.91[ASN][1000 genomes]
rs10881655	0.91[ASN][1000 genomes]
rs10881656	0.91[ASN][1000 genomes]
rs10881657	0.90[ASN][1000 genomes]
rs10881658	0.90[ASN][1000 genomes]
rs10881659	0.90[ASN][1000 genomes]
rs10881660	0.90[ASN][1000 genomes]
rs10881662	0.90[ASN][1000 genomes]
rs10881664	0.90[ASN][1000 genomes]
rs10881665	0.90[ASN][1000 genomes]
rs10881666	0.92[ASN][1000 genomes]
rs10881667	0.92[ASN][1000 genomes]
rs10881668	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10881669	0.92[ASN][1000 genomes]
rs10881670	0.92[ASN][1000 genomes]
rs10881671	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881677	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10881678	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881679	0.96[EUR][1000 genomes]
rs10982	0.92[ASN][1000 genomes]
rs11185830	0.82[ASN][1000 genomes]
rs11185831	0.82[ASN][1000 genomes]
rs11185833	0.82[ASN][1000 genomes]
rs11185850	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11185851	0.83[ASN][1000 genomes]
rs11185852	0.81[ASN][1000 genomes]
rs11185853	0.83[ASN][1000 genomes]
rs11185855	0.83[ASN][1000 genomes]
rs11185858	0.83[ASN][1000 genomes]
rs11185861	0.86[ASN][1000 genomes]
rs11185864	0.88[ASN][1000 genomes]
rs11185870	0.90[ASN][1000 genomes]
rs11185878	0.92[ASN][1000 genomes]
rs11185880	0.92[ASN][1000 genomes]
rs11185881	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11185882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185884	0.82[EUR][1000 genomes]
rs11185886	0.82[EUR][1000 genomes]
rs11185887	0.96[EUR][1000 genomes]
rs11185888	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11185890	0.91[EUR][1000 genomes]
rs1126480	0.88[ASN][1000 genomes]
rs11813214	0.89[ASN][1000 genomes]
rs12218194	0.82[ASN][1000 genomes]
rs12243552	0.91[ASN][1000 genomes]
rs12247868	0.91[ASN][1000 genomes]
rs12248156	0.83[ASN][1000 genomes]
rs12249500	0.89[ASN][1000 genomes]
rs12253793	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12254296	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12256229	0.89[ASN][1000 genomes]
rs12264026	0.92[ASN][1000 genomes]
rs12264044	0.90[ASN][1000 genomes]
rs12948	0.92[ASN][1000 genomes]
rs1324699	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324700	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409318	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409319	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409358	0.82[ASN][1000 genomes]
rs1555868	0.92[ASN][1000 genomes]
rs1886997	0.88[ASN][1000 genomes]
rs1886998	0.88[ASN][1000 genomes]
rs1887037	0.82[ASN][1000 genomes]
rs1998644	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1998645	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2017527	0.90[ASN][1000 genomes]
rs2026549	0.90[ASN][1000 genomes]
rs2026550	0.90[ASN][1000 genomes]
rs2026551	0.90[ASN][1000 genomes]
rs2077946	0.90[ASN][1000 genomes]
rs2094212	0.82[ASN][1000 genomes]
rs2094213	0.82[ASN][1000 genomes]
rs2182396	0.83[ASN][1000 genomes]
rs2418928	0.83[ASN][1000 genomes]
rs2419057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419085	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2900802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900813	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135002	0.82[ASN][1000 genomes]
rs35929113	0.83[ASN][1000 genomes]
rs3740036	0.90[ASN][1000 genomes]
rs3740037	0.90[ASN][1000 genomes]
rs3758384	0.83[ASN][1000 genomes]
rs3758385	0.82[ASN][1000 genomes]
rs3824609	0.90[ASN][1000 genomes]
rs3908479	0.80[ASN][1000 genomes]
rs4126596	0.92[ASN][1000 genomes]
rs4274138	0.96[EUR][1000 genomes]
rs4558081	0.82[ASN][1000 genomes]
rs4934498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4934502	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4934503	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772495	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56664691	0.88[ASN][1000 genomes]
rs61481124	0.90[ASN][1000 genomes]
rs61870788	0.88[ASN][1000 genomes]
rs6586217	0.83[ASN][1000 genomes]
rs6586218	0.83[ASN][1000 genomes]
rs7073779	0.82[ASN][1000 genomes]
rs7074112	0.83[ASN][1000 genomes]
rs7074290	0.83[ASN][1000 genomes]
rs7076259	0.82[ASN][1000 genomes]
rs7077349	0.83[ASN][1000 genomes]
rs7081362	0.92[ASN][1000 genomes]
rs7083066	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085805	0.83[ASN][1000 genomes]
rs7087240	0.82[ASN][1000 genomes]
rs7087738	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088104	0.83[ASN][1000 genomes]
rs7088570	0.82[ASN][1000 genomes]
rs7089108	0.83[ASN][1000 genomes]
rs7089326	0.83[ASN][1000 genomes]
rs7089473	0.83[ASN][1000 genomes]
rs7090618	0.82[ASN][1000 genomes]
rs7092444	0.90[ASN][1000 genomes]
rs7094633	0.82[ASN][1000 genomes]
rs7095702	0.82[EUR][1000 genomes]
rs7095818	0.92[ASN][1000 genomes]
rs7096466	0.83[ASN][1000 genomes]
rs7097496	0.82[ASN][1000 genomes]
rs7100603	0.82[ASN][1000 genomes]
rs7100756	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716781	0.82[ASN][1000 genomes]
rs735936	0.81[EUR][1000 genomes]
rs7893678	0.88[ASN][1000 genomes]
rs7894081	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895001	0.86[ASN][1000 genomes]
rs7895379	0.86[ASN][1000 genomes]
rs7896461	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7898670	0.91[ASN][1000 genomes]
rs7899264	0.82[ASN][1000 genomes]
rs7901438	0.88[ASN][1000 genomes]
rs7902655	0.86[ASN][1000 genomes]
rs7902875	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7904847	0.88[ASN][1000 genomes]
rs7906112	0.83[ASN][1000 genomes]
rs7909550	0.87[ASN][1000 genomes]
rs7910001	0.88[ASN][1000 genomes]
rs7912347	0.88[ASN][1000 genomes]
rs7912464	0.90[ASN][1000 genomes]
rs7913109	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919866	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7921817	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7924196	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181361	0.85[ASN][1000 genomes]
rs913033	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325443	0.83[ASN][1000 genomes]
rs943129	0.82[ASN][1000 genomes]
rs962524	0.90[ASN][1000 genomes]
rs9663129	0.86[ASN][1000 genomes]
rs9665314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980520	0.83[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	nsv1046241	chr10:91478562-91614437	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1036581	chr10:91526705-91691536	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4934501	RP11-248C1.3	cis	Artery Tibial	GTEx
rs4934501	LINC00865	cis	Artery Tibial	GTEx
rs4934501	LINC00865	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91541400-91560000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:91553800-91555800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:91553800-91555800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:91554000-91555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:91554000-91555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:91554000-91555800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:91554000-91555800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:91554000-91556200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr10:91554200-91555600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr10:91554200-91556000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:91554200-91556000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:91554400-91555800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:91555200-91556200	Weak transcription	HepG2	liver
14	chr10:91555400-91555800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:91555400-91555800	Enhancers	Primary B cells from cord blood	blood

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