Variant report

Variant	rs2465512
Chromosome Location	chr7:79362845-79362846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10240404	0.88[EUR][1000 genomes]
rs10251224	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252802	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971717	1.00[ASN][1000 genomes]
rs1293101	1.00[ASN][1000 genomes]
rs1293110	0.82[EUR][1000 genomes]
rs1293112	0.82[EUR][1000 genomes]
rs1293114	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293115	0.82[EUR][1000 genomes]
rs1293116	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1297413	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13242909	1.00[ASN][1000 genomes]
rs1523834	1.00[EUR][1000 genomes]
rs1523842	0.89[EUR][1000 genomes]
rs1523843	0.89[EUR][1000 genomes]
rs1589726	0.89[EUR][1000 genomes]
rs1608511	0.91[EUR][1000 genomes]
rs1880167	0.98[EUR][1000 genomes]
rs1916732	0.98[EUR][1000 genomes]
rs1916740	0.98[EUR][1000 genomes]
rs1922729	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922734	0.98[EUR][1000 genomes]
rs2222904	0.98[EUR][1000 genomes]
rs2244728	0.91[EUR][1000 genomes]
rs2244821	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264651	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366248	0.98[EUR][1000 genomes]
rs2428626	1.00[ASN][1000 genomes]
rs2464827	1.00[ASN][1000 genomes]
rs2465517	0.88[EUR][1000 genomes]
rs2525817	1.00[ASN][1000 genomes]
rs2525818	1.00[ASN][1000 genomes]
rs2525819	1.00[ASN][1000 genomes]
rs2525821	1.00[ASN][1000 genomes]
rs2525828	1.00[ASN][1000 genomes]
rs2689777	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689779	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689780	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689782	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689797	0.89[EUR][1000 genomes]
rs2689802	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689804	1.00[EUR][1000 genomes]
rs2689805	1.00[EUR][1000 genomes]
rs2689806	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689810	0.98[EUR][1000 genomes]
rs2689811	1.00[EUR][1000 genomes]
rs2707858	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2707886	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2707888	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707890	1.00[ASN][1000 genomes]
rs2707891	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707893	1.00[ASN][1000 genomes]
rs2707894	1.00[ASN][1000 genomes]
rs2707895	1.00[ASN][1000 genomes]
rs2707897	1.00[EUR][1000 genomes]
rs2707903	1.00[ASN][1000 genomes]
rs2707910	1.00[ASN][1000 genomes]
rs2707912	1.00[ASN][1000 genomes]
rs2707915	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707916	1.00[ASN][1000 genomes]
rs2707919	1.00[ASN][1000 genomes]
rs2707926	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714641	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714642	1.00[EUR][1000 genomes]
rs2714652	0.89[EUR][1000 genomes]
rs2714653	0.82[EUR][1000 genomes]
rs2714655	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2714662	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2714680	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714697	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2714701	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714702	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288313	0.88[EUR][1000 genomes]
rs6466768	0.89[EUR][1000 genomes]
rs6963713	0.91[EUR][1000 genomes]
rs7777781	0.92[EUR][1000 genomes]
rs7780715	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7794240	0.88[EUR][1000 genomes]
rs940305	0.89[EUR][1000 genomes]
rs940306	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs940307	0.89[EUR][1000 genomes]
rs940308	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758121	chr7:79261464-79427646	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759540	chr7:79261464-79427646	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv607670	chr7:79310586-79434743	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv464602	chr7:79315761-79402551	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv607671	chr7:79315761-79402551	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1016075	chr7:79316477-79404957	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033114	chr7:79317818-79408713	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv607672	chr7:79319930-79367667	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv607673	chr7:79319930-79368072	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv607674	chr7:79319930-79394881	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1020043	chr7:79320516-79401875	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1018854	chr7:79320516-79404957	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1025266	chr7:79320516-79408713	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1023653	chr7:79320516-79410073	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3351717	chr7:79344350-79371408	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
18	esv2829876	chr7:79355196-79483480	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79362600-79363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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