Variant report

Variant	rs847962
Chromosome Location	chr7:12509227-12509228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227025	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10232837	0.93[YRI][hapmap]
rs10233068	0.86[YRI][hapmap]
rs10242038	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10250893	0.87[AFR][1000 genomes]
rs10280210	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10280738	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1100131	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1100132	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1100139	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100140	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100141	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100142	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100144	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1440023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1659967	0.94[ASN][1000 genomes]
rs1659979	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17166002	0.93[YRI][hapmap]
rs17166055	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1899030	0.90[EUR][1000 genomes]
rs28465410	0.83[AFR][1000 genomes]
rs28806867	0.81[AFR][1000 genomes]
rs4721111	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs56990442	0.87[AFR][1000 genomes]
rs6947818	0.87[AFR][1000 genomes]
rs6977228	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs702473	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs73052774	0.87[ASN][1000 genomes]
rs73290188	0.83[AFR][1000 genomes]
rs7791110	0.83[AFR][1000 genomes]
rs847903	0.82[EUR][1000 genomes]
rs847904	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847906	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847911	0.92[ASN][1000 genomes]
rs847912	0.92[ASN][1000 genomes]
rs847913	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847921	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs847925	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847927	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs847928	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847935	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847939	0.90[EUR][1000 genomes]
rs847946	0.94[EUR][1000 genomes]
rs847948	0.89[EUR][1000 genomes]
rs847960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847967	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847969	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847970	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847971	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847972	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847974	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847975	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847976	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847978	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847981	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847984	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847985	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847986	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847987	0.89[ASN][1000 genomes]
rs847988	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs847991	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs847992	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs847993	0.94[ASN][1000 genomes]
rs847994	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs847996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs847997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs847998	0.89[ASN][1000 genomes]
rs848000	0.89[ASN][1000 genomes]
rs848002	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848007	0.87[ASN][1000 genomes]
rs848010	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs848014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs848017	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.87[ASN][1000 genomes]
rs848018	0.87[ASN][1000 genomes]
rs848019	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[ASN][1000 genomes]
rs848024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848030	0.85[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs864039	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv1801371	chr7:12498138-12522283	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2757212	chr7:12505613-12596535	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2759511	chr7:12505613-12596535	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1017055	chr7:12509227-12553217	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:12504000-12510600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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