Variant report

Variant	rs12371102
Chromosome Location	chr12:104259067-104259068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104252726..104255857-chr12:104256920..104259686,3	MCF-7	breast:
2	chr12:104257250..104260227-chr12:104261729..104263369,2	K562	blood:
3	chr12:104256917..104259122-chr12:104264989..104267074,2	MCF-7	breast:
4	chr12:104233269..104235056-chr12:104256558..104259181,2	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10745984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861142	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10861143	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10861146	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11111815	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111821	0.86[EUR][1000 genomes]
rs11111831	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12302488	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369947	0.91[CEU][hapmap]
rs17034938	0.90[CEU][hapmap]
rs2576969	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs3812801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135138	0.88[CHB][hapmap]
rs6539103	0.95[ASN][1000 genomes]
rs7302036	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968124	0.95[ASN][1000 genomes]
rs7971317	0.95[ASN][1000 genomes]
rs7971563	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308316	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9989004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104250000-104263800	Weak transcription	Liver	Liver
2	chr12:104253600-104261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
4	chr12:104255000-104259200	Weak transcription	Osteobl	bone
5	chr12:104255600-104262200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:104257000-104259200	Enhancers	HepG2	liver
7	chr12:104257200-104259200	Enhancers	Placenta	Placenta
8	chr12:104257600-104259200	Enhancers	Esophagus	oesophagus
9	chr12:104257800-104259200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:104257800-104259200	Enhancers	Colon Smooth Muscle	Colon
11	chr12:104257800-104259200	Enhancers	Fetal Thymus	thymus
12	chr12:104257800-104260200	Enhancers	HMEC	breast
13	chr12:104257800-104260400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:104258000-104259800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104258000-104260200	Enhancers	NHEK	skin
16	chr12:104258000-104261800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:104258600-104259200	Enhancers	Stomach Smooth Muscle	stomach
18	chr12:104258600-104259200	Enhancers	HSMM	muscle
19	chr12:104258600-104259600	Enhancers	HSMMtube	muscle
20	chr12:104258800-104259200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:104259000-104260400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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