Variant report

Variant	rs2730294
Chromosome Location	chr12:105224459-105224460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10507183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10507185	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs10778354	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs10778356	0.89[ASN][1000 genomes]
rs10861278	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861281	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs10861282	0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861291	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs10861293	0.87[ASN][1000 genomes]
rs10861295	0.89[ASN][1000 genomes]
rs10861297	0.86[ASN][1000 genomes]
rs11112207	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112210	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112221	0.81[ASN][1000 genomes]
rs11112234	0.93[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12230637	0.88[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs1494099	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs17828033	0.90[ASN][1000 genomes]
rs17829927	0.94[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2029736	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2047125	0.82[EUR][1000 genomes]
rs2047126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047127	0.83[EUR][1000 genomes]
rs2220813	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2245695	0.88[ASN][1000 genomes]
rs2249941	0.88[ASN][1000 genomes]
rs2252843	0.87[ASN][1000 genomes]
rs2264883	0.88[ASN][1000 genomes]
rs2264893	0.89[ASN][1000 genomes]
rs2453163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453169	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453171	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2463430	0.95[ASN][1000 genomes]
rs2468088	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2468094	0.99[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468097	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs2468098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468102	0.82[EUR][1000 genomes]
rs2468103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468104	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2468106	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2468107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468108	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468336	0.89[ASN][1000 genomes]
rs2468338	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468342	0.96[ASN][1000 genomes]
rs2468343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468344	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2468345	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468397	0.88[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2642119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642121	0.82[EUR][1000 genomes]
rs2731031	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4130161	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs4257060	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4537841	0.85[ASN][1000 genomes]
rs4630370	0.88[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4644704	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs6539169	0.81[EUR][1000 genomes]
rs7959777	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs7961766	0.87[ASN][1000 genomes]
rs7971260	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7971392	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976567	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs969629	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs9705471	0.86[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	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	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
3	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:105219800-105240800	Weak transcription	Gastric	stomach
3	chr12:105220400-105229000	Strong transcription	Liver	Liver
4	chr12:105220400-105239600	Weak transcription	Aorta	Aorta
5	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:105221000-105227000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
10	chr12:105223400-105232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:105223600-105237000	Weak transcription	Rectal Mucosa Donor 29	rectum

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