Variant report

Variant	rs7310956
Chromosome Location	chr12:43132628-43132629
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	chr12:43131978..43133518-chr12:43137105..43138970,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1000413	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10128809	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10161278	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506215	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10785374	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785376	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880360	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11181669	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12425497	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12578732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12816928	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12830101	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056195	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3921403	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768446	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768447	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7305756	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43130000-43135000	Weak transcription	NH-A	brain
2	chr12:43130200-43133600	Weak transcription	Aorta	Aorta
3	chr12:43130200-43135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:43130200-43135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:43130200-43135800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:43130200-43137400	Weak transcription	Pancreas	Pancrea
7	chr12:43130200-43138000	Weak transcription	HMEC	breast
8	chr12:43130400-43132800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:43130400-43133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:43130400-43133000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:43130400-43133000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:43130400-43133000	Weak transcription	Right Ventricle	heart
13	chr12:43130400-43135000	Weak transcription	HSMMtube	muscle
14	chr12:43130400-43135600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:43130400-43135600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:43130400-43136000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:43130400-43137400	Weak transcription	Esophagus	oesophagus
18	chr12:43130400-43138000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:43130400-43138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:43130600-43135600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:43130800-43136600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:43131200-43135000	Weak transcription	HSMM	muscle
23	chr12:43131400-43133000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:43131800-43132800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:43131800-43132800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:43131800-43133000	Weak transcription	Left Ventricle	heart
27	chr12:43131800-43133000	Weak transcription	Right Atrium	heart
28	chr12:43131800-43133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:43131800-43133200	Weak transcription	Fetal Brain Male	brain
30	chr12:43131800-43133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:43131800-43135000	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:43131800-43135800	Weak transcription	Fetal Stomach	stomach
33	chr12:43131800-43136000	Weak transcription	Fetal Lung	lung
34	chr12:43131800-43136200	Weak transcription	Psoas Muscle	Psoas
35	chr12:43131800-43137600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:43131800-43139200	Enhancers	Fetal Heart	heart
37	chr12:43132600-43139400	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links