Variant report

Variant	rs12539395
Chromosome Location	chr7:87279856-87279857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87269655..87271490-chr7:87279266..87280881,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1015415	1.00[CEU][hapmap]
rs10215700	0.87[EUR][1000 genomes]
rs10215973	0.91[EUR][1000 genomes]
rs10226830	0.86[EUR][1000 genomes]
rs10226849	0.96[EUR][1000 genomes]
rs10227951	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230718	0.96[EUR][1000 genomes]
rs10232457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10237097	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10237201	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10238564	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10239908	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10239922	0.91[EUR][1000 genomes]
rs10244734	0.96[EUR][1000 genomes]
rs10245767	0.87[EUR][1000 genomes]
rs10246786	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10247258	0.96[EUR][1000 genomes]
rs10252990	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10253106	0.86[CEU][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10259182	0.96[EUR][1000 genomes]
rs10260007	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10264856	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268868	0.87[EUR][1000 genomes]
rs10269158	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10276499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276819	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10952899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532279	0.96[EUR][1000 genomes]
rs12532941	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12533477	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs12540032	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540931	1.00[CEU][hapmap]
rs12669619	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13438651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17149810	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs17149864	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17150009	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2073985	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2106522	1.00[EUR][1000 genomes]
rs2157926	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2188527	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2188828	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2214101	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2214106	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2285649	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373574	0.98[EUR][1000 genomes]
rs28381774	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs28437979	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28449219	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28449354	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28537604	0.87[EUR][1000 genomes]
rs28546778	0.87[EUR][1000 genomes]
rs28627774	0.87[EUR][1000 genomes]
rs28642834	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28645115	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28774398	0.96[EUR][1000 genomes]
rs28831998	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4728709	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs58638862	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59058733	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465117	1.00[EUR][1000 genomes]
rs6465118	0.87[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6948061	0.96[EUR][1000 genomes]
rs6951067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6952943	0.87[EUR][1000 genomes]
rs6972098	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73706914	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73706916	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73706922	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73706924	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73706950	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7790722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798074	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7801337	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9655954	0.96[EUR][1000 genomes]
rs9655955	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs976602	0.96[EUR][1000 genomes]
rs992422	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87279600-87280400	Enhancers	Muscle Satellite Cultured Cells	--

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