Variant report

Variant	rs12595772
Chromosome Location	chr15:50603583-50603584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50474126..50476076-chr15:50603381..50605325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction
ENSG00000140284	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12438041	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12438692	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438726	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12441687	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591072	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591371	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16963635	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58035812	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61086221	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167333	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7174329	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7181866	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8031031	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8552	0.89[EUR][1000 genomes];0.89[ASN][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50570400-50606600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:50580400-50605000	Weak transcription	Fetal Heart	heart
3	chr15:50580800-50638400	Weak transcription	NHEK	skin
4	chr15:50593600-50605200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:50594000-50608400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:50594000-50610200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:50594200-50603600	Weak transcription	NH-A	brain
8	chr15:50594200-50608400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:50594600-50610400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:50594800-50604400	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:50596400-50623400	Weak transcription	Aorta	Aorta
12	chr15:50596600-50608000	Weak transcription	Liver	Liver
13	chr15:50596800-50611400	Weak transcription	Right Atrium	heart
14	chr15:50597000-50628600	Weak transcription	Fetal Stomach	stomach
15	chr15:50600600-50603800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:50600600-50610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:50600600-50610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:50600800-50604200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:50600800-50604200	Weak transcription	Osteobl	bone
20	chr15:50600800-50604800	Weak transcription	A549	lung
21	chr15:50600800-50605400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:50600800-50607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:50600800-50608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:50600800-50608200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:50600800-50608200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:50600800-50608200	Weak transcription	Adipose Nuclei	Adipose
27	chr15:50600800-50608200	Weak transcription	Hela-S3	cervix
28	chr15:50600800-50610200	Weak transcription	Primary T cells from cord blood	blood
29	chr15:50600800-50610200	Weak transcription	Pancreas	Pancrea
30	chr15:50600800-50610400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:50600800-50610600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:50600800-50610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:50600800-50610800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:50600800-50612800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:50600800-50613600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:50600800-50617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:50600800-50618600	Weak transcription	Fetal Intestine Large	intestine
38	chr15:50600800-50623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:50600800-50629400	Weak transcription	Placenta	Placenta
40	chr15:50600800-50631200	Weak transcription	Left Ventricle	heart
41	chr15:50600800-50635400	Weak transcription	HepG2	liver
42	chr15:50600800-50641400	Weak transcription	HSMM	muscle
43	chr15:50600800-50641600	Weak transcription	Fetal Kidney	kidney
44	chr15:50600800-50643000	Weak transcription	Fetal Thymus	thymus
45	chr15:50600800-50643400	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:50600800-50644200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:50600800-50644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:50601000-50603800	Weak transcription	Fetal Lung	lung
49	chr15:50601000-50604000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:50601000-50604800	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links