Variant report

Variant	rs9971651
Chromosome Location	chr12:46806621-46806622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46775337..46777845-chr12:46804415..46806846,2	K562	blood:
2	chr12:46802430..46804963-chr12:46805880..46807589,2	K562	blood:
3	chr12:46806325..46808651-chr12:46810581..46812866,3	K562	blood:
4	chr12:46545129..46547951-chr12:46804730..46806716,2	MCF-7	breast:
5	chr12:46765042..46767059-chr12:46805564..46807462,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10785631	1.00[CEU][hapmap]
rs10880975	1.00[CEU][hapmap]
rs10880976	1.00[CEU][hapmap]
rs10880977	1.00[CEU][hapmap]
rs11183462	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183463	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183464	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183485	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183489	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183497	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs11829502	1.00[CEU][hapmap]
rs11831177	1.00[CEU][hapmap]
rs11831920	1.00[CEU][hapmap]
rs11831929	1.00[CEU][hapmap]
rs11836915	1.00[CEU][hapmap]
rs11836940	1.00[CEU][hapmap]
rs12298393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12300125	1.00[CEU][hapmap]
rs12303084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12305921	1.00[CEU][hapmap]
rs12307205	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580121	1.00[CEU][hapmap]
rs17096991	1.00[CEU][hapmap]
rs17096995	1.00[CEU][hapmap]
rs17097002	1.00[CEU][hapmap]
rs17097022	1.00[CEU][hapmap]
rs17121410	1.00[CEU][hapmap]
rs17121412	1.00[CEU][hapmap]
rs2430940	1.00[CEU][hapmap]
rs2430942	1.00[CEU][hapmap]
rs2430946	1.00[CEU][hapmap]
rs2430947	1.00[CEU][hapmap]
rs2471583	1.00[CEU][hapmap]
rs2471594	1.00[CEU][hapmap]
rs2471602	1.00[CEU][hapmap]
rs2471605	1.00[CEU][hapmap]
rs2471608	1.00[CEU][hapmap]
rs2471618	1.00[CEU][hapmap]
rs2909411	1.00[CEU][hapmap]
rs6582666	1.00[CEU][hapmap]
rs7295471	1.00[CEU][hapmap]
rs7310326	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46795000-46809200	Weak transcription	Esophagus	oesophagus
2	chr12:46797000-46819800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:46798600-46807200	Weak transcription	Small Intestine	intestine
4	chr12:46798800-46806800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:46799000-46809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:46801000-46808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:46802000-46812200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:46802800-46807200	Weak transcription	Fetal Lung	lung
9	chr12:46803000-46806800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:46803200-46809400	Weak transcription	Left Ventricle	heart
11	chr12:46804200-46807400	Weak transcription	HUVEC	blood vessel
12	chr12:46804800-46808600	Weak transcription	Osteobl	bone
13	chr12:46804800-46809400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:46805400-46807400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:46805400-46807400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:46805400-46809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:46805600-46806800	Weak transcription	Fetal Heart	heart
18	chr12:46805600-46806800	Weak transcription	HepG2	liver
19	chr12:46806400-46812000	Weak transcription	Primary B cells from cord blood	blood

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