Variant report

Variant	rs2073985
Chromosome Location	chr7:87368731-87368732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10215700	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10215973	0.85[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10226830	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10226849	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10227951	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230718	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232457	0.90[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10237097	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10237201	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10238564	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239908	0.90[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10239922	0.96[EUR][1000 genomes]
rs10244734	0.96[EUR][1000 genomes]
rs10245767	0.86[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs10246786	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10247258	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252990	0.86[CEU][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10253106	0.90[ASW][hapmap];0.88[GIH][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10259182	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260007	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10264856	0.86[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268868	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10269158	0.86[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10276499	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276819	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10952899	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532279	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532941	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533477	0.86[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12539395	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540032	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540931	0.86[CEU][hapmap]
rs12669619	0.90[ASW][hapmap];0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13438651	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17149810	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs17149864	0.90[ASW][hapmap];0.86[CEU][hapmap];0.90[GIH][hapmap];0.94[LWK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17150009	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2106522	0.96[EUR][1000 genomes]
rs2157926	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2157929	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2188527	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2214101	0.90[ASW][hapmap];0.86[CEU][hapmap];0.90[GIH][hapmap];0.86[LWK][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2214106	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285646	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285649	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373574	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28381774	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs28437979	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28449219	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28449354	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28537604	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28546778	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28627774	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28642834	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28645115	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28774398	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28831998	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4728709	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs58638862	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59058733	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6465117	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465118	0.81[ASW][hapmap];0.86[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap]
rs6948061	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951067	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap]
rs6952943	0.86[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs6972098	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706914	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706916	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706922	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73706924	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73706950	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790722	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7798074	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801337	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9655954	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9655955	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs976602	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs992422	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	nsv888695	chr7:87328502-87430669	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3396303	chr7:87352350-87394627	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3433938	chr7:87356350-87387170	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3425044	chr7:87356350-87394526	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87368000-87368800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:87368000-87369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:87368000-87369800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:87368200-87368800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:87368600-87368800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:87368600-87370000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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