Variant report

Variant	rs4963385
Chromosome Location	chr11:63012798-63012799
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63005254..63007411-chr11:63010336..63012960,2	K562	blood:

Variant related genes	Relation type
ENSG00000256863	Chromatin interaction

Extended variants
information (count: 187 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10750995	0.94[ASN][1000 genomes]
rs10792403	0.94[ASN][1000 genomes]
rs10792404	0.94[ASN][1000 genomes]
rs10792406	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10897380	0.94[ASN][1000 genomes]
rs10897381	0.91[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs10897382	0.94[ASN][1000 genomes]
rs10897383	0.91[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.94[ASN][1000 genomes]
rs10897384	0.91[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.94[ASN][1000 genomes]
rs10897387	0.90[ASN][1000 genomes]
rs10897390	0.96[ASN][1000 genomes]
rs10897392	0.96[ASN][1000 genomes]
rs10897396	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs10897397	0.91[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs10897399	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]
rs10897407	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs1122524	0.90[ASN][1000 genomes]
rs11231391	0.94[ASN][1000 genomes]
rs11231392	0.94[ASN][1000 genomes]
rs11231394	0.94[ASN][1000 genomes]
rs11231395	0.93[ASN][1000 genomes]
rs11231396	0.94[ASN][1000 genomes]
rs11231397	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11231403	0.94[ASN][1000 genomes]
rs11231406	0.83[ASN][1000 genomes]
rs11231409	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]
rs11231410	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]
rs11231411	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]
rs11231412	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11231413	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11231414	0.97[ASN][1000 genomes]
rs11231417	0.96[ASN][1000 genomes]
rs11231418	0.96[ASN][1000 genomes]
rs11231419	0.96[ASN][1000 genomes]
rs11494212	0.91[ASN][1000 genomes]
rs1152244	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1152245	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1152246	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11524468	0.96[ASN][1000 genomes]
rs11524903	0.97[ASN][1000 genomes]
rs11537206	0.93[ASN][1000 genomes]
rs11559570	0.86[ASN][1000 genomes]
rs1193642	0.97[ASN][1000 genomes]
rs1193645	0.97[ASN][1000 genomes]
rs1193646	0.97[ASN][1000 genomes]
rs1193718	0.91[ASN][1000 genomes]
rs1193726	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1193729	0.89[ASN][1000 genomes]
rs1193733	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1193772	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193774	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193789	0.90[ASN][1000 genomes]
rs1193856	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1193891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193892	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1193893	0.97[ASN][1000 genomes]
rs1193894	0.97[ASN][1000 genomes]
rs1193896	0.96[ASN][1000 genomes]
rs1193897	0.94[ASN][1000 genomes]
rs1193904	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1193905	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1201559	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1205166	0.90[ASN][1000 genomes]
rs1205186	0.90[ASN][1000 genomes]
rs1211246	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211550	0.95[ASN][1000 genomes]
rs12224010	0.94[ASN][1000 genomes]
rs12225186	0.94[ASN][1000 genomes]
rs12416737	0.97[ASN][1000 genomes]
rs12417255	0.97[ASN][1000 genomes]
rs12417508	0.96[ASN][1000 genomes]
rs12418081	0.97[ASN][1000 genomes]
rs12574223	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12574967	0.97[ASN][1000 genomes]
rs12576556	0.96[ASN][1000 genomes]
rs12577849	0.96[ASN][1000 genomes]
rs1300795	0.97[ASN][1000 genomes]
rs1300796	0.96[ASN][1000 genomes]
rs1300798	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1308010	0.96[ASN][1000 genomes]
rs1404608	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1525064	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1525071	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1608760	0.90[ASN][1000 genomes]
rs1723213	0.91[ASN][1000 genomes]
rs1723219	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1783634	0.91[ASN][1000 genomes]
rs1783652	0.96[ASN][1000 genomes]
rs1783654	0.97[ASN][1000 genomes]
rs1789327	0.89[ASN][1000 genomes]
rs1789334	0.91[ASN][1000 genomes]
rs1790218	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1830026	0.96[ASN][1000 genomes]
rs1852067	0.96[ASN][1000 genomes]
rs1939739	0.94[ASN][1000 genomes]
rs1944086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1944091	0.97[ASN][1000 genomes]
rs1944092	0.82[ASN][1000 genomes]
rs1997038	0.96[ASN][1000 genomes]
rs2155316	0.94[ASN][1000 genomes]
rs2186719	0.94[ASN][1000 genomes]
rs2186721	0.94[ASN][1000 genomes]
rs2222591	0.94[ASN][1000 genomes]
rs2226866	0.82[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2317089	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2317090	0.94[ASN][1000 genomes]
rs2317093	0.94[ASN][1000 genomes]
rs2510590	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2510591	0.82[ASN][1000 genomes]
rs3891629	0.90[CHB][hapmap];0.98[CHD][hapmap];0.94[ASN][1000 genomes]
rs3915142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3937020	0.90[ASN][1000 genomes]
rs4000269	0.95[ASN][1000 genomes]
rs4060975	0.85[ASN][1000 genomes]
rs4258381	0.96[ASN][1000 genomes]
rs4315076	0.97[ASN][1000 genomes]
rs4337047	0.94[ASN][1000 genomes]
rs4344494	0.96[ASN][1000 genomes]
rs4445638	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs474096	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.91[ASN][1000 genomes]
rs474191	0.91[ASN][1000 genomes]
rs474815	0.87[ASN][1000 genomes]
rs474874	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs483012	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs486460	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs494608	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs4963252	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4963380	0.88[ASN][1000 genomes]
rs4963381	0.88[ASN][1000 genomes]
rs505653	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs513338	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs515213	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs516536	0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs524724	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs527027	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs527869	0.90[ASN][1000 genomes]
rs532085	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.91[ASN][1000 genomes]
rs534799	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs537194	0.82[ASN][1000 genomes]
rs540141	0.90[ASN][1000 genomes]
rs543429	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs548885	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs549144	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[ASN][1000 genomes]
rs554430	0.90[ASN][1000 genomes]
rs556730	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs557658	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs557879	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55963399	0.94[ASN][1000 genomes]
rs56030503	0.89[ASN][1000 genomes]
rs565787	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs572017	0.91[ASN][1000 genomes]
rs575009	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.91[ASN][1000 genomes]
rs576641	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58347848	0.92[ASN][1000 genomes]
rs58673340	0.97[ASN][1000 genomes]
rs59019924	0.95[ASN][1000 genomes]
rs59626188	0.97[ASN][1000 genomes]
rs60090619	0.97[ASN][1000 genomes]
rs60477987	0.97[ASN][1000 genomes]
rs61928110	0.83[ASN][1000 genomes]
rs61928158	0.97[ASN][1000 genomes]
rs6591771	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6591772	0.87[ASN][1000 genomes]
rs6591778	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7115707	0.94[ASN][1000 genomes]
rs7126435	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs7130728	0.91[ASN][1000 genomes]
rs722508	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap]
rs7925045	0.94[ASN][1000 genomes]
rs7925760	0.93[ASN][1000 genomes]
rs7928993	0.88[ASN][1000 genomes]
rs7929092	0.83[ASN][1000 genomes]
rs7932800	0.96[ASN][1000 genomes]
rs7938140	1.00[ASN][1000 genomes]
rs7938146	0.97[ASN][1000 genomes]
rs7938863	0.94[ASN][1000 genomes]
rs7949840	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045308	chr11:62803635-63109338	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv541059	chr11:62803635-63109338	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv555177	chr11:62847518-63110569	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1049725	chr11:62848172-63057827	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv541060	chr11:62848172-63057827	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1047571	chr11:62848172-63109338	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv430397	chr11:62852616-63072310	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv897627	chr11:62984868-63119486	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4963385	ACTN3	cis	cerebellum	SCAN
rs4963385	SLC22A25	cis	Esophagus Mucosa	GTEx
rs4963385	SDHAF2	cis	parietal	SCAN
rs4963385	RBM4B	cis	parietal	SCAN
rs4963385	STX5	cis	parietal	SCAN
rs4963385	DNAJC4	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63008200-63012800	Enhancers	Thymus	Thymus
2	chr11:63008800-63021800	Enhancers	HepG2	liver
3	chr11:63009000-63014600	Weak transcription	Pancreas	Pancrea
4	chr11:63011000-63013200	Active TSS	Liver	Liver
5	chr11:63012400-63012800	Enhancers	H1 Cell Line	embryonic stem cell

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