Variant report

Variant	rs11183510
Chromosome Location	chr12:46890592-46890593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46887887..46889752-chr12:46890058..46892698,2	MCF-7	breast:
2	chr12:46881119..46884848-chr12:46886427..46890898,4	K562	blood:
3	chr12:46765216..46767739-chr12:46890093..46894226,4	MCF-7	breast:
4	chr12:46775574..46778072-chr12:46890335..46892914,3	K562	blood:
5	chr12:46773608..46782926-chr12:46881237..46891957,39	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10467215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11183454	0.82[CHB][hapmap]
rs11183467	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs11183482	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs11183500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125908	0.81[CHB][hapmap];0.89[CHD][hapmap]
rs11830086	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs12296535	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12296783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12299499	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs12302091	0.83[ASN][1000 genomes]
rs12317179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12317255	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs12321468	0.82[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap]
rs12321512	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12321960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13377959	0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs17096884	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs17096896	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs17096922	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17096996	1.00[EUR][1000 genomes]
rs17096998	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2307062	0.82[CHB][hapmap]
rs2307063	0.82[CHB][hapmap]
rs2408578	1.00[EUR][1000 genomes]
rs34098443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36010856	0.97[ASN][1000 genomes]
rs3742061	0.82[CHB][hapmap]
rs3935048	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55649919	1.00[EUR][1000 genomes]
rs58127062	0.94[ASN][1000 genomes]
rs58353248	0.94[ASN][1000 genomes]
rs58890669	0.97[ASN][1000 genomes]
rs59451063	1.00[EUR][1000 genomes]
rs59608605	0.97[ASN][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[EUR][1000 genomes]
rs7136748	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs7313172	0.90[ASN][1000 genomes]
rs73290315	0.97[ASN][1000 genomes]
rs74085404	1.00[EUR][1000 genomes]
rs74085421	1.00[EUR][1000 genomes]
rs74085432	1.00[EUR][1000 genomes]
rs74085442	1.00[EUR][1000 genomes]
rs74085444	1.00[EUR][1000 genomes]
rs74085447	1.00[EUR][1000 genomes]
rs7953339	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7954314	0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs7967889	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs7975472	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs7980023	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46882800-46894200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:46887800-46890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:46888600-46909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:46888800-46893800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46889000-46892600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:46889000-46895400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:46889000-46897400	Weak transcription	HSMM	muscle
8	chr12:46889600-46890800	Enhancers	NHLF	lung
9	chr12:46890000-46892200	Weak transcription	Placenta	Placenta
10	chr12:46890200-46890600	Enhancers	Osteobl	bone
11	chr12:46890200-46890800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:46890200-46890800	Enhancers	NH-A	brain
13	chr12:46890400-46890600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:46890400-46890600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:46890400-46890800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:46890400-46892200	Weak transcription	Hela-S3	cervix

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