Variant report

Variant	rs62336002
Chromosome Location	chr5:1751419-1751420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1750900..1753381-chr5:1759749..1762364,2	MCF-7	breast:
2	chr5:1749109..1751475-chr5:1763505..1766051,2	K562	blood:
3	chr5:1751341..1753384-chr5:1755237..1757665,3	K562	blood:
4	chr5:1685822..1687877-chr5:1750546..1752406,2	K562	blood:
5	chr5:1667066..1668003-chr5:1750732..1751621,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10040260	0.86[ASN][1000 genomes]
rs10051983	0.90[ASN][1000 genomes]
rs10052607	0.86[ASN][1000 genomes]
rs10054276	0.83[ASN][1000 genomes]
rs10055369	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058444	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10065079	0.85[ASN][1000 genomes]
rs10068432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073549	0.86[ASN][1000 genomes]
rs10076498	0.82[ASN][1000 genomes]
rs10077977	0.84[ASN][1000 genomes]
rs10079414	0.85[ASN][1000 genomes]
rs11133891	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11742258	0.92[ASN][1000 genomes]
rs11747573	0.85[ASN][1000 genomes]
rs11749397	0.85[ASN][1000 genomes]
rs11750112	0.85[ASN][1000 genomes]
rs11948299	0.85[ASN][1000 genomes]
rs1392466	0.85[ASN][1000 genomes]
rs1392467	0.85[ASN][1000 genomes]
rs1392468	0.85[ASN][1000 genomes]
rs1392470	0.92[ASN][1000 genomes]
rs16884243	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884541	0.94[ASN][1000 genomes]
rs16884543	0.92[EUR][1000 genomes]
rs2088734	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2242411	0.90[ASN][1000 genomes]
rs4507532	0.85[ASN][1000 genomes]
rs62336000	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62336012	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62336013	0.95[EUR][1000 genomes]
rs6554987	0.86[ASN][1000 genomes]
rs6554988	0.85[ASN][1000 genomes]
rs6554990	0.85[ASN][1000 genomes]
rs6554992	0.83[ASN][1000 genomes]
rs6868041	0.85[ASN][1000 genomes]
rs6868434	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6876537	0.84[ASN][1000 genomes]
rs6883700	0.85[ASN][1000 genomes]
rs6897241	0.85[ASN][1000 genomes]
rs7700421	0.85[ASN][1000 genomes]
rs7707604	0.84[ASN][1000 genomes]
rs7714838	0.85[ASN][1000 genomes]
rs7723915	0.83[ASN][1000 genomes]
rs7725276	0.92[ASN][1000 genomes]
rs7725775	0.92[ASN][1000 genomes]
rs7734505	0.85[ASN][1000 genomes]
rs904759	0.83[ASN][1000 genomes]
rs955481	0.85[ASN][1000 genomes]
rs9686864	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1016383	chr5:1658338-1775551	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv881179	chr5:1705102-1775600	Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv881473	chr5:1723445-1769749	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv880472	chr5:1725206-1763661	Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv880725	chr5:1725206-1764128	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv880829	chr5:1725206-1764750	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1745200-1753000	Weak transcription	Right Atrium	heart
2	chr5:1751200-1752000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:1751200-1752200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr5:1751200-1752800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:1751400-1751600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr5:1751400-1752000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:1751400-1752200	Bivalent Enhancer	Fetal Brain Male	brain

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