Variant report

Variant	rs12371253
Chromosome Location	chr12:2168797-2168798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:2160826..2164021-chr12:2166670..2169761,3	MCF-7	breast:
2	chr12:2166110..2169668-chr12:2171220..2175217,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151067	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10848606	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11062076	0.85[EUR][1000 genomes]
rs11062086	0.85[EUR][1000 genomes]
rs11062091	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11062093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11062094	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12321674	0.85[EUR][1000 genomes]
rs12371284	0.87[ASN][1000 genomes]
rs2215095	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283269	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2429151	0.88[CHB][hapmap]
rs2470401	0.85[EUR][1000 genomes]
rs2470422	0.84[EUR][1000 genomes]
rs67408467	0.92[EUR][1000 genomes]
rs68133359	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7300631	0.85[EUR][1000 genomes]
rs740456	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888329	0.86[CHB][hapmap];0.87[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9888349	0.88[CHB][hapmap]
rs9888368	0.86[CHB][hapmap];0.85[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	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826182	chr12:2136395-2208074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2162800-2178600	Enhancers	Fetal Heart	heart
2	chr12:2164400-2173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:2165000-2178000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:2165400-2172800	Weak transcription	Osteobl	bone
5	chr12:2165400-2173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:2165800-2172800	Weak transcription	NHLF	lung
7	chr12:2166400-2173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:2166800-2170600	Weak transcription	Ovary	ovary
9	chr12:2166800-2177400	Weak transcription	NHDF-Ad	bronchial
10	chr12:2167000-2173400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:2167000-2173400	Weak transcription	Spleen	Spleen
12	chr12:2167200-2170800	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:2167200-2172800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:2167400-2169400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:2167400-2172800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:2167600-2170600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:2167600-2178800	Weak transcription	Brain Anterior Caudate	brain
18	chr12:2167800-2169000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:2167800-2171000	Enhancers	Aorta	Aorta
20	chr12:2168000-2168800	Enhancers	Left Ventricle	heart
21	chr12:2168000-2169000	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr12:2168000-2169800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr12:2168400-2171600	Weak transcription	Right Atrium	heart
24	chr12:2168400-2173200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:2168600-2169000	Enhancers	Stomach Smooth Muscle	stomach
26	chr12:2168600-2170600	Weak transcription	Right Ventricle	heart
27	chr12:2168600-2173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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