Variant report

Variant	rs62312545
Chromosome Location	chr4:75160894-75160895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75155655..75159395-chr4:75160422..75166473,8	K562	blood:
2	chr4:75151979..75153510-chr4:75158471..75161433,2	K562	blood:
3	chr4:75108484..75110398-chr4:75159304..75161148,2	MCF-7	breast:
4	chr4:75160113..75161742-chr4:75169307..75170869,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10009707	0.86[EUR][1000 genomes]
rs10010575	0.81[EUR][1000 genomes]
rs10013212	0.94[EUR][1000 genomes]
rs10017409	0.89[EUR][1000 genomes]
rs10017417	0.85[EUR][1000 genomes]
rs10018373	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10019396	0.95[EUR][1000 genomes]
rs10023519	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10026687	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028285	0.88[EUR][1000 genomes]
rs1037824	0.92[EUR][1000 genomes]
rs10938112	0.95[EUR][1000 genomes]
rs11737662	0.87[EUR][1000 genomes]
rs11942725	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11945418	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1246575	0.83[EUR][1000 genomes]
rs1246577	0.84[EUR][1000 genomes]
rs1246578	0.83[EUR][1000 genomes]
rs1246579	0.83[EUR][1000 genomes]
rs1246580	0.82[EUR][1000 genomes]
rs1246582	0.84[EUR][1000 genomes]
rs1246584	0.84[EUR][1000 genomes]
rs1246586	0.84[EUR][1000 genomes]
rs1246587	0.84[EUR][1000 genomes]
rs1246588	0.84[EUR][1000 genomes]
rs1246590	0.82[EUR][1000 genomes]
rs1246591	0.81[EUR][1000 genomes]
rs1246594	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1246597	0.81[EUR][1000 genomes]
rs12500697	0.83[EUR][1000 genomes]
rs1265327	0.84[EUR][1000 genomes]
rs1380561	0.88[EUR][1000 genomes]
rs1460017	0.81[EUR][1000 genomes]
rs16850862	0.89[EUR][1000 genomes]
rs16850883	0.92[EUR][1000 genomes]
rs16850941	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17232394	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17829765	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2045616	0.92[EUR][1000 genomes]
rs2045617	0.92[EUR][1000 genomes]
rs2061508	0.86[EUR][1000 genomes]
rs2367555	0.82[EUR][1000 genomes]
rs2367745	0.80[EUR][1000 genomes]
rs28378517	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28436705	0.93[EUR][1000 genomes]
rs28539097	0.87[EUR][1000 genomes]
rs28644493	0.86[EUR][1000 genomes]
rs4502653	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs488440	0.84[EUR][1000 genomes]
rs62312513	0.85[EUR][1000 genomes]
rs62312515	0.88[EUR][1000 genomes]
rs6446983	0.85[EUR][1000 genomes]
rs6446984	0.87[EUR][1000 genomes]
rs6446985	0.87[EUR][1000 genomes]
rs6814880	0.92[EUR][1000 genomes]
rs6819605	0.89[EUR][1000 genomes]
rs6820992	0.92[EUR][1000 genomes]
rs6821664	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6835734	0.91[EUR][1000 genomes]
rs6854203	0.87[EUR][1000 genomes]
rs6854723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6858809	0.82[EUR][1000 genomes]
rs715844	0.81[EUR][1000 genomes]
rs72654839	0.81[EUR][1000 genomes]
rs7659389	0.86[EUR][1000 genomes]
rs7665105	0.86[EUR][1000 genomes]
rs7670535	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672588	0.87[EUR][1000 genomes]
rs7680463	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9684145	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9992393	0.88[EUR][1000 genomes]
rs9997322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9997788	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75134000-75173800	Weak transcription	Primary T cells from cord blood	blood
2	chr4:75144400-75162000	Weak transcription	Primary B cells from cord blood	blood
3	chr4:75149800-75186200	Weak transcription	K562	blood
4	chr4:75151400-75164600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:75156000-75162000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:75156600-75165400	Weak transcription	Psoas Muscle	Psoas
7	chr4:75156600-75174200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:75159200-75162000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:75159600-75170200	Weak transcription	NHEK	skin
10	chr4:75159800-75161600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:75160200-75173800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:75160800-75161200	Enhancers	Fetal Kidney	kidney
13	chr4:75160800-75168400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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