Variant report

Variant	rs12214716
Chromosome Location	chr6:132331090-132331091
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	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1011555	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10457579	0.85[EUR][1000 genomes]
rs1206738	0.87[EUR][1000 genomes]
rs1206739	0.87[EUR][1000 genomes]
rs12193041	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12212906	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12214663	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2022390	0.91[ASN][1000 genomes]
rs2022391	0.91[ASN][1000 genomes]
rs2327195	0.87[EUR][1000 genomes]
rs2327196	0.85[EUR][1000 genomes]
rs233928	0.96[ASN][1000 genomes]
rs233929	0.96[ASN][1000 genomes]
rs233930	0.90[ASN][1000 genomes]
rs233931	0.90[ASN][1000 genomes]
rs233932	0.90[ASN][1000 genomes]
rs4349833	0.83[EUR][1000 genomes]
rs576718	0.90[ASN][1000 genomes]
rs6900348	0.87[EUR][1000 genomes]
rs6903186	0.85[EUR][1000 genomes]
rs7356961	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7357002	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737454	0.82[EUR][1000 genomes]
rs7742135	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9321318	0.90[EUR][1000 genomes]
rs9373006	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9373007	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373010	0.87[EUR][1000 genomes]
rs9373011	0.87[EUR][1000 genomes]
rs9385593	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9388957	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9388965	0.84[EUR][1000 genomes]
rs9399006	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9399007	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9402380	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9402381	0.91[ASN][1000 genomes]
rs9402382	0.91[ASN][1000 genomes]
rs9402383	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9483372	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv886672	chr6:132299748-132349215	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886673	chr6:132299748-132363507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv427768	chr6:132300468-132398477	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132326800-132332000	Weak transcription	Aorta	Aorta
2	chr6:132329200-132332800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:132329200-132332800	Weak transcription	Osteobl	bone
4	chr6:132329400-132331200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:132329400-132332200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:132329400-132332400	Weak transcription	NHDF-Ad	bronchial
7	chr6:132330400-132331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:132330400-132333600	Enhancers	HepG2	liver
9	chr6:132330600-132333000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:132330800-132331200	Enhancers	Right Atrium	heart
11	chr6:132330800-132331600	Enhancers	Stomach Mucosa	stomach
12	chr6:132330800-132331600	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:132330800-132332000	Weak transcription	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