Variant report

Variant	rs12469870
Chromosome Location	chr2:172042035-172042036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172037922..172040353-chr2:172040710..172043498,2	MCF-7	breast:
2	chr2:172037115..172039035-chr2:172040563..172042289,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019710	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1019711	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11883894	0.98[ASN][1000 genomes]
rs12464487	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12467411	0.81[EUR][1000 genomes]
rs12469418	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12473741	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12477413	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12477548	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477555	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12478336	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16859157	0.81[ASN][1000 genomes]
rs16859189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16859203	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859206	1.00[ASN][1000 genomes]
rs1863679	0.94[ASN][1000 genomes]
rs1989612	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1989613	0.98[ASN][1000 genomes]
rs2356517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35614064	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770419	1.00[EUR][1000 genomes]
rs4305237	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4331471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4365428	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56216250	0.99[ASN][1000 genomes]
rs56686274	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs57335774	0.98[ASN][1000 genomes]
rs57851561	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58126203	0.81[EUR][1000 genomes]
rs58289498	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58441581	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58712847	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59083018	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60091560	0.98[ASN][1000 genomes]
rs60241632	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60724749	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60729063	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60928633	1.00[EUR][1000 genomes]
rs728456	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728457	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7423767	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522291	chr2:172034918-172043803	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172038800-172042200	Weak transcription	NHEK	skin
2	chr2:172041600-172042200	Enhancers	Fetal Intestine Large	intestine
3	chr2:172041600-172042600	Enhancers	Liver	Liver
4	chr2:172041600-172042600	Enhancers	NHDF-Ad	bronchial
5	chr2:172041600-172043000	Bivalent Enhancer	HepG2	liver
6	chr2:172041600-172043000	Enhancers	HSMMtube	muscle
7	chr2:172041800-172042200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr2:172041800-172042200	Enhancers	Osteobl	bone
9	chr2:172041800-172043000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:172041800-172043000	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:172041800-172043200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:172041800-172043200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:172041800-172043200	Enhancers	A549	lung
14	chr2:172041800-172043200	Enhancers	NH-A	brain
15	chr2:172041800-172043400	Enhancers	Colon Smooth Muscle	Colon
16	chr2:172041800-172044000	Enhancers	NHLF	lung
17	chr2:172042000-172042200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:172042000-172042400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:172042000-172042400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:172042000-172042600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:172042000-172043000	Enhancers	Ovary	ovary
22	chr2:172042000-172043000	Enhancers	HSMM	muscle
23	chr2:172042000-172043000	Enhancers	K562	blood
24	chr2:172042000-172043200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:172042000-172043200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:172042000-172043200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links