Variant report

Variant	rs62312515
Chromosome Location	chr4:75120431-75120432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10009707	0.87[EUR][1000 genomes]
rs10013212	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10017409	0.85[EUR][1000 genomes]
rs10017417	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10018373	0.97[EUR][1000 genomes]
rs10019396	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023519	0.87[EUR][1000 genomes]
rs10026687	0.87[EUR][1000 genomes]
rs10028285	0.84[EUR][1000 genomes]
rs1037824	0.82[EUR][1000 genomes]
rs10433673	0.90[EUR][1000 genomes]
rs10938112	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11724468	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11731340	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11737662	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11945418	0.87[EUR][1000 genomes]
rs1246575	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1246577	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246578	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246579	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246580	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1246582	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246584	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246587	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246588	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246590	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246591	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1246594	0.90[EUR][1000 genomes]
rs1246597	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12500697	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1265327	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13116896	0.90[EUR][1000 genomes]
rs13142241	0.86[EUR][1000 genomes]
rs1371796	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1371797	0.81[EUR][1000 genomes]
rs1380561	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1460016	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1460017	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16850862	0.85[EUR][1000 genomes]
rs16850883	0.82[EUR][1000 genomes]
rs17232394	0.87[EUR][1000 genomes]
rs1964526	0.89[EUR][1000 genomes]
rs2045616	0.82[EUR][1000 genomes]
rs2045617	0.82[EUR][1000 genomes]
rs2045618	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2061508	0.87[EUR][1000 genomes]
rs2367555	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2367745	0.91[EUR][1000 genomes]
rs28378517	0.91[EUR][1000 genomes]
rs28436705	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539097	0.87[EUR][1000 genomes]
rs28592249	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28644493	0.87[EUR][1000 genomes]
rs28695994	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4371587	0.88[EUR][1000 genomes]
rs4502653	0.87[EUR][1000 genomes]
rs4577545	0.83[EUR][1000 genomes]
rs4694184	0.87[EUR][1000 genomes]
rs488440	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536541	0.81[EUR][1000 genomes]
rs565831	0.81[EUR][1000 genomes]
rs62312513	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62312545	0.88[EUR][1000 genomes]
rs6446983	0.86[EUR][1000 genomes]
rs6446984	0.86[EUR][1000 genomes]
rs6446985	0.86[EUR][1000 genomes]
rs6811214	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6814880	0.82[EUR][1000 genomes]
rs6819605	0.85[EUR][1000 genomes]
rs6820992	0.82[EUR][1000 genomes]
rs6821664	0.88[EUR][1000 genomes]
rs6835734	0.81[EUR][1000 genomes]
rs6854203	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854723	0.88[EUR][1000 genomes]
rs6858809	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7659389	0.87[EUR][1000 genomes]
rs7665105	0.87[EUR][1000 genomes]
rs7670535	0.88[EUR][1000 genomes]
rs7672588	0.87[EUR][1000 genomes]
rs7676371	0.81[EUR][1000 genomes]
rs7678292	0.82[EUR][1000 genomes]
rs7681137	0.81[EUR][1000 genomes]
rs7681763	0.81[EUR][1000 genomes]
rs7681912	0.87[EUR][1000 genomes]
rs7683181	0.87[EUR][1000 genomes]
rs9992393	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9997322	0.88[EUR][1000 genomes]
rs9997788	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75119600-75124600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:75119600-75124800	Weak transcription	Right Ventricle	heart
3	chr4:75119600-75125000	Weak transcription	Lung	lung
4	chr4:75119800-75120800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:75119800-75123200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:75119800-75124800	Weak transcription	Esophagus	oesophagus
7	chr4:75119800-75124800	Weak transcription	K562	blood
8	chr4:75119800-75125000	Weak transcription	Pancreas	Pancrea
9	chr4:75119800-75125800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:75119800-75133200	Weak transcription	NHEK	skin
11	chr4:75119800-75148800	Weak transcription	Aorta	Aorta
12	chr4:75120000-75141200	Weak transcription	Primary hematopoietic stem cells	blood

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