Variant report

Variant	rs10246516
Chromosome Location	chr7:12594785-12594786
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12585818..12589608-chr7:12591268..12595860,4	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10081298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10224863	1.00[EUR][1000 genomes]
rs10225555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10227025	1.00[EUR][1000 genomes]
rs10237460	1.00[EUR][1000 genomes]
rs10237637	1.00[EUR][1000 genomes]
rs10237916	1.00[AMR][1000 genomes]
rs10240596	1.00[EUR][1000 genomes]
rs10242038	1.00[EUR][1000 genomes]
rs10245022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10245998	1.00[EUR][1000 genomes]
rs10246117	1.00[EUR][1000 genomes]
rs10250215	1.00[EUR][1000 genomes]
rs10250861	1.00[EUR][1000 genomes]
rs10250893	1.00[EUR][1000 genomes]
rs10251780	1.00[EUR][1000 genomes]
rs10253924	1.00[EUR][1000 genomes]
rs10255590	1.00[EUR][1000 genomes]
rs10259184	1.00[AMR][1000 genomes]
rs10259433	1.00[EUR][1000 genomes]
rs10266459	1.00[EUR][1000 genomes]
rs10266645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267494	1.00[EUR][1000 genomes]
rs10267708	1.00[EUR][1000 genomes]
rs10276230	1.00[AMR][1000 genomes]
rs10277600	1.00[EUR][1000 genomes]
rs10280210	1.00[EUR][1000 genomes]
rs10280738	1.00[EUR][1000 genomes]
rs13328318	1.00[EUR][1000 genomes]
rs17166190	1.00[AMR][1000 genomes]
rs28409186	1.00[EUR][1000 genomes]
rs28451348	1.00[EUR][1000 genomes]
rs28465410	1.00[EUR][1000 genomes]
rs28575127	1.00[EUR][1000 genomes]
rs28806867	1.00[EUR][1000 genomes]
rs56990442	1.00[EUR][1000 genomes]
rs60906834	1.00[AMR][1000 genomes]
rs6947818	1.00[EUR][1000 genomes]
rs6968985	1.00[EUR][1000 genomes]
rs73288165	1.00[EUR][1000 genomes]
rs73288192	1.00[EUR][1000 genomes]
rs73288195	1.00[EUR][1000 genomes]
rs73290105	1.00[EUR][1000 genomes]
rs73290106	1.00[EUR][1000 genomes]
rs73290188	1.00[EUR][1000 genomes]
rs73306910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777458	1.00[EUR][1000 genomes]
rs7789032	1.00[EUR][1000 genomes]
rs7791110	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	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
6	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv528031	chr7:12536336-12618764	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1025397	chr7:12543161-12612059	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025006	chr7:12543161-12618924	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1027831	chr7:12543161-12619740	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv470066	chr7:12543794-12618764	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1033478	chr7:12547121-12618924	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv464379	chr7:12572742-12618764	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv606231	chr7:12572742-12618764	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1018053	chr7:12580554-12632996	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12588600-12596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:12593400-12594800	Weak transcription	K562	blood
3	chr7:12594400-12594800	Enhancers	Fetal Intestine Large	intestine
4	chr7:12594600-12594800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:12594600-12594800	Flanking Active TSS	Fetal Kidney	kidney

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