Variant report

Variant	rs7617994
Chromosome Location	chr3:19522955-19522956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10510495	0.83[ASN][1000 genomes]
rs10514672	1.00[CEU][hapmap]
rs10514673	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11543540	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11561668	0.82[ASN][1000 genomes]
rs1348231	1.00[CEU][hapmap]
rs1372548	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap]
rs1372551	1.00[CEU][hapmap]
rs1442199	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs1470213	0.85[YRI][hapmap]
rs17005936	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17005937	1.00[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs17005949	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs17005954	1.00[CEU][hapmap]
rs17005967	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[MEX][hapmap]
rs17005972	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs17005976	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs17005980	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs17005983	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17005985	1.00[CEU][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17005994	0.85[GIH][hapmap]
rs17005998	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs17006003	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17006010	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs17006048	1.00[CEU][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs17006054	0.84[ASN][1000 genomes]
rs17006062	0.84[ASN][1000 genomes]
rs4021207	1.00[CEU][hapmap]
rs57272811	0.82[ASN][1000 genomes]
rs57575850	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57684768	0.92[ASN][1000 genomes]
rs58183288	0.81[EUR][1000 genomes]
rs58996643	0.83[ASN][1000 genomes]
rs60546560	0.94[ASN][1000 genomes]
rs60566663	0.84[ASN][1000 genomes]
rs60777133	0.87[ASN][1000 genomes]
rs60942804	0.92[ASN][1000 genomes]
rs61579329	0.83[ASN][1000 genomes]
rs6776448	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6781577	0.85[GIH][hapmap]
rs6781615	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796647	1.00[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs6800537	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6801951	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes]
rs7626734	0.83[ASN][1000 genomes]
rs7626907	0.83[ASN][1000 genomes]
rs7649671	0.83[ASN][1000 genomes]
rs7653865	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951678	1.00[CEU][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs9841624	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948636	chr3:19335802-19856585	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3386719	chr3:19454588-19895807	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv876595	chr3:19512074-19726308	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv3718	chr3:19520852-19565669	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19513000-19532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:19514600-19530200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:19518000-19523200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:19518000-19531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:19518200-19535400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:19518800-19523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:19522000-19523000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:19522600-19525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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