Variant report

Variant	rs12511631
Chromosome Location	chr4:78287606-78287607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78287359..78291622-chr4:78351702..78357008,5	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10016230	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs11930470	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11936421	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12498728	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12499311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12500776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502346	0.82[EUR][1000 genomes]
rs12503990	0.82[EUR][1000 genomes]
rs12505837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12506515	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12506585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17002580	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1806738	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1806786	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs1962168	0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs1962351	0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs28413838	0.82[EUR][1000 genomes]
rs28437320	0.82[EUR][1000 genomes]
rs28454139	0.82[EUR][1000 genomes]
rs28477195	0.80[ASN][1000 genomes]
rs28522639	0.82[EUR][1000 genomes]
rs2866287	0.82[EUR][1000 genomes]
rs2866288	0.82[EUR][1000 genomes]
rs2866289	0.83[EUR][1000 genomes]
rs2866290	0.90[EUR][1000 genomes]
rs28711853	0.82[EUR][1000 genomes]
rs2903240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4282207	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs4579145	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs55905288	0.90[EUR][1000 genomes]
rs57104380	0.90[EUR][1000 genomes]
rs59732128	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6650924	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67084501	0.82[EUR][1000 genomes]
rs67295944	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67714872	0.82[EUR][1000 genomes]
rs67955395	0.82[EUR][1000 genomes]
rs72648554	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648556	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648557	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648559	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648560	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72648563	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72648565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648568	0.81[EUR][1000 genomes]
rs72648573	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648575	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72648578	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648580	0.96[ASN][1000 genomes]
rs72648581	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648583	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648584	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648585	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648586	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72650413	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72864744	0.82[EUR][1000 genomes]
rs7674431	0.90[EUR][1000 genomes]
rs7695052	0.83[EUR][1000 genomes]
rs7695467	0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs9990691	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000447	chr4:78191608-78291173	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1000392	chr4:78273146-78301467	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1011607	chr4:78273146-78302096	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3388448	chr4:78275408-78288612	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv822623	chr4:78275840-78287983	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv964256	chr4:78275995-78288301	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv822624	chr4:78276050-78287983	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3442840	chr4:78277532-78309591	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78277400-78287800	Weak transcription	Fetal Thymus	thymus
2	chr4:78287200-78289200	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links