Variant report

Variant	rs7311970
Chromosome Location	chr12:31746047-31746048
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255867	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10843957	0.84[EUR][1000 genomes]
rs10843962	0.84[EUR][1000 genomes]
rs10843966	0.88[EUR][1000 genomes]
rs10843968	0.90[EUR][1000 genomes]
rs10843969	0.92[EUR][1000 genomes]
rs10843971	0.91[EUR][1000 genomes]
rs10843972	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051440	0.81[EUR][1000 genomes]
rs11051446	0.81[EUR][1000 genomes]
rs11051454	0.88[EUR][1000 genomes]
rs11051461	0.88[EUR][1000 genomes]
rs11051467	0.91[EUR][1000 genomes]
rs11051472	0.91[EUR][1000 genomes]
rs11051476	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051478	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12368987	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371432	0.84[EUR][1000 genomes]
rs1268747	0.84[EUR][1000 genomes]
rs16918740	0.90[EUR][1000 genomes]
rs1879385	0.88[EUR][1000 genomes]
rs2351921	0.84[EUR][1000 genomes]
rs2351922	0.83[EUR][1000 genomes]
rs2351923	0.84[EUR][1000 genomes]
rs3803114	0.92[EUR][1000 genomes]
rs3850966	0.91[EUR][1000 genomes]
rs3887250	0.80[EUR][1000 genomes]
rs3898712	0.84[EUR][1000 genomes]
rs4930979	0.84[EUR][1000 genomes]
rs4931511	0.84[EUR][1000 genomes]
rs4931512	0.84[EUR][1000 genomes]
rs4931513	0.84[EUR][1000 genomes]
rs61097018	0.84[EUR][1000 genomes]
rs6487991	0.81[EUR][1000 genomes]
rs6487995	0.92[EUR][1000 genomes]
rs7132688	0.84[EUR][1000 genomes]
rs7297507	0.88[EUR][1000 genomes]
rs7302695	0.88[EUR][1000 genomes]
rs73088601	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7960380	0.90[EUR][1000 genomes]
rs7963764	0.83[EUR][1000 genomes]
rs7980274	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1804747	chr12:31743194-31748491	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1840310	chr12:31743194-31750986	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31744600-31747800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:31744800-31747600	Weak transcription	HSMM	muscle
3	chr12:31745000-31746200	Enhancers	Fetal Intestine Large	intestine
4	chr12:31745000-31747000	Weak transcription	Right Atrium	heart
5	chr12:31745000-31747000	Weak transcription	HSMMtube	muscle
6	chr12:31745000-31747800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:31745000-31749800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:31745200-31750200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:31745400-31747600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:31745400-31747600	Weak transcription	HepG2	liver
11	chr12:31745400-31750200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:31745400-31750400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:31745600-31747600	Weak transcription	Fetal Heart	heart
15	chr12:31746000-31746200	Enhancers	A549	lung

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