Variant report

Variant	rs7964623
Chromosome Location	chr12:25341338-25341339
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	chr12:25339080..25340582-chr12:25340786..25343717,2	MCF-7	breast:
2	chr12:25339039..25341718-chr12:25343903..25345457,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10743548	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771175	0.85[AMR][1000 genomes]
rs10771176	0.85[AMR][1000 genomes]
rs10771183	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842495	0.82[AMR][1000 genomes]
rs10842503	0.88[ASN][1000 genomes]
rs10842515	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842516	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842517	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047878	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11047879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11047885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047903	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047904	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047908	0.90[ASN][1000 genomes]
rs11047914	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1137282	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836509	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367971	0.85[AMR][1000 genomes]
rs17388573	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17389103	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3924650	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4313666	0.82[AMR][1000 genomes]
rs4368021	0.86[EUR][1000 genomes]
rs4606562	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55950027	0.81[AMR][1000 genomes]
rs61761150	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61762422	0.81[ASN][1000 genomes]
rs7133640	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7298444	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7303373	0.85[AMR][1000 genomes]
rs7309670	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7960917	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968023	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7973450	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977616	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7980769	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7980834	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS 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	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25339800-25343000	Enhancers	Osteobl	bone
2	chr12:25339800-25343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:25340000-25341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:25340000-25342800	Enhancers	NH-A	brain
5	chr12:25340000-25342800	Enhancers	NHDF-Ad	bronchial
6	chr12:25340000-25343000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:25340000-25343000	Enhancers	NHLF	lung
8	chr12:25340200-25347400	Weak transcription	Liver	Liver
9	chr12:25340600-25341400	Enhancers	HSMMtube	muscle
10	chr12:25340600-25342600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:25340600-25342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:25340800-25341800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:25340800-25342000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:25341000-25342400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:25341000-25347200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:25341000-25347200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:25341000-25347400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:25341000-25347400	Weak transcription	HMEC	breast
19	chr12:25341200-25346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:25341200-25347400	Weak transcription	NHEK	skin

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