Variant report

Variant	rs34198570
Chromosome Location	chr12:76215011-76215012
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	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10431516	0.84[EUR][1000 genomes]
rs10431517	0.80[EUR][1000 genomes]
rs10431594	0.80[EUR][1000 genomes]
rs10431595	0.80[EUR][1000 genomes]
rs11180691	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11180694	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11180698	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180699	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11180700	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180702	0.84[EUR][1000 genomes]
rs11180704	0.84[EUR][1000 genomes]
rs11180706	0.80[EUR][1000 genomes]
rs11180708	0.80[EUR][1000 genomes]
rs12809551	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12819031	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12827587	0.80[EUR][1000 genomes]
rs12831736	0.80[EUR][1000 genomes]
rs1532294	0.84[EUR][1000 genomes]
rs1565771	0.84[EUR][1000 genomes]
rs17115738	0.86[AFR][1000 genomes]
rs17115780	0.84[EUR][1000 genomes]
rs34148649	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34175277	0.83[ASN][1000 genomes]
rs34666369	0.80[ASN][1000 genomes]
rs35319713	0.80[EUR][1000 genomes]
rs35630793	0.80[ASN][1000 genomes]
rs35906325	0.84[EUR][1000 genomes]
rs35916241	0.80[EUR][1000 genomes]
rs4531531	0.80[EUR][1000 genomes]
rs71460148	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71460149	0.80[EUR][1000 genomes]
rs71460151	0.80[ASN][1000 genomes]
rs937245	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv521900	chr12:76212383-76215754	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76208800-76221200	Enhancers	NHLF	lung
2	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
3	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
4	chr12:76211800-76217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:76212400-76216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:76212400-76216400	Enhancers	HMEC	breast
7	chr12:76212600-76215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:76212800-76216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76213400-76215200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:76213400-76215200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:76213400-76218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:76213400-76218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:76213400-76218600	Weak transcription	Esophagus	oesophagus
14	chr12:76213600-76217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:76213600-76217600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:76213600-76219200	Weak transcription	Fetal Kidney	kidney
17	chr12:76214000-76215400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:76214000-76215600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:76214200-76215400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:76214200-76215400	Enhancers	Adipose Nuclei	Adipose
21	chr12:76214200-76215400	Enhancers	NH-A	brain
22	chr12:76214400-76215400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:76214400-76216600	Enhancers	Fetal Lung	lung
24	chr12:76214600-76215200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:76214600-76215200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:76214600-76216200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:76214800-76215200	Flanking Active TSS	Osteobl	bone
28	chr12:76214800-76215400	Enhancers	Colon Smooth Muscle	Colon
29	chr12:76215000-76215200	Enhancers	HSMM	muscle
30	chr12:76215000-76215400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:76215000-76215400	Enhancers	HSMMtube	muscle
32	chr12:76215000-76215600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:76215000-76215800	Enhancers	NHEK	skin
34	chr12:76215000-76216400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:76215000-76216400	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:76215000-76218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:76215000-76219000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:76215000-76219800	Weak transcription	Aorta	Aorta
39	chr12:76215000-76220600	Enhancers	NHDF-Ad	bronchial
40	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links