Variant report

Variant	rs2463430
Chromosome Location	chr12:105188653-105188654
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	chr12:105187897..105189481-chr12:105191929..105194027,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10507183	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.93[ASN][1000 genomes]
rs10507185	0.94[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs10778354	0.94[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs10778356	0.84[ASN][1000 genomes]
rs10861278	0.96[ASN][1000 genomes]
rs10861280	0.95[ASN][1000 genomes]
rs10861282	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10861291	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs10861293	0.84[ASN][1000 genomes]
rs10861295	0.84[ASN][1000 genomes]
rs10861297	0.81[ASN][1000 genomes]
rs11112207	0.84[CEU][hapmap]
rs11112208	0.80[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs11112234	0.93[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs12230637	0.88[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1466718	0.96[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs17828033	0.92[ASN][1000 genomes]
rs17829927	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs2047126	0.93[ASN][1000 genomes]
rs2245695	0.83[ASN][1000 genomes]
rs2249941	0.83[ASN][1000 genomes]
rs2252843	0.82[ASN][1000 genomes]
rs2264883	0.83[ASN][1000 genomes]
rs2264893	0.84[ASN][1000 genomes]
rs2453163	0.95[ASN][1000 genomes]
rs2453164	0.95[ASN][1000 genomes]
rs2453169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2453170	0.85[EUR][1000 genomes]
rs2468088	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468094	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468095	0.96[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs2468096	0.96[ASN][1000 genomes]
rs2468098	0.96[ASN][1000 genomes]
rs2468103	0.95[ASN][1000 genomes]
rs2468107	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2468108	0.95[ASN][1000 genomes]
rs2468336	0.84[ASN][1000 genomes]
rs2468338	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468339	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs2468341	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][1000 genomes]
rs2468342	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468343	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][1000 genomes]
rs2468344	0.97[ASN][1000 genomes]
rs2468345	0.95[ASN][1000 genomes]
rs2468397	0.88[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs2642119	0.95[ASN][1000 genomes]
rs2642120	1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs2730294	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs4130161	0.82[CHB][hapmap]
rs4537841	0.81[ASN][1000 genomes]
rs4630370	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs4644704	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs7959777	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7961766	0.84[ASN][1000 genomes]
rs7971260	0.92[ASN][1000 genomes]
rs7971392	0.93[ASN][1000 genomes]
rs9705471	0.81[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105183000-105189800	Weak transcription	Brain Germinal Matrix	brain
2	chr12:105187000-105189400	Weak transcription	Left Ventricle	heart
3	chr12:105187000-105189400	Weak transcription	Psoas Muscle	Psoas
4	chr12:105187200-105189200	Weak transcription	Aorta	Aorta
5	chr12:105187200-105189400	Weak transcription	Adipose Nuclei	Adipose
6	chr12:105187200-105189400	Weak transcription	Right Atrium	heart
7	chr12:105187200-105189400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:105187400-105188800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:105187400-105189400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:105187400-105189400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:105187400-105191800	Weak transcription	HSMMtube	muscle
12	chr12:105187400-105213600	Weak transcription	Pancreas	Pancrea
13	chr12:105187600-105189000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:105187600-105189600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:105187800-105189400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:105188200-105189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links