Variant report

Variant	rs12712060
Chromosome Location	chr2:100431122-100431123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10194527	0.98[ASN][1000 genomes]
rs10198310	0.88[ASN][1000 genomes]
rs10199548	0.88[ASN][1000 genomes]
rs10204617	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10496340	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10865032	0.86[ASN][1000 genomes]
rs11123794	0.82[AMR][1000 genomes]
rs11123796	0.88[ASN][1000 genomes]
rs1344701	0.94[ASN][1000 genomes]
rs1344702	0.98[ASN][1000 genomes]
rs1346621	0.83[ASN][1000 genomes]
rs1366761	0.90[ASN][1000 genomes]
rs1366763	0.90[ASN][1000 genomes]
rs1366766	0.96[ASN][1000 genomes]
rs1429268	0.94[ASN][1000 genomes]
rs1429269	0.94[ASN][1000 genomes]
rs1568786	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1594111	0.90[ASN][1000 genomes]
rs1594113	0.90[ASN][1000 genomes]
rs1608640	0.90[ASN][1000 genomes]
rs2115600	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2309650	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2309690	0.83[AMR][1000 genomes]
rs2871310	0.90[ASN][1000 genomes]
rs4286327	0.90[ASN][1000 genomes]
rs4481043	0.96[ASN][1000 genomes]
rs4521099	0.93[ASN][1000 genomes]
rs4851231	0.85[ASN][1000 genomes]
rs4851235	0.94[ASN][1000 genomes]
rs62147565	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6542900	0.96[ASN][1000 genomes]
rs6542901	0.94[ASN][1000 genomes]
rs6723474	0.98[ASN][1000 genomes]
rs6725716	0.97[ASN][1000 genomes]
rs6755396	0.81[EUR][1000 genomes]
rs6758027	0.82[AMR][1000 genomes]
rs7558575	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7560078	0.97[ASN][1000 genomes]
rs7562121	0.83[ASN][1000 genomes]
rs7566083	0.89[ASN][1000 genomes]
rs7596023	0.97[ASN][1000 genomes]
rs9967704	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv2845	chr2:100421826-100466558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100420400-100439400	Weak transcription	Fetal Brain Female	brain
2	chr2:100420800-100431800	Strong transcription	Primary B cells from cord blood	blood
3	chr2:100423600-100454600	Weak transcription	Lung	lung
4	chr2:100423800-100434600	Weak transcription	Fetal Brain Male	brain
5	chr2:100424000-100443000	Weak transcription	Dnd41	blood
6	chr2:100424200-100436200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:100424600-100438200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:100426800-100436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:100428000-100439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:100428000-100443000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100428600-100431200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:100428600-100432800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:100428600-100443000	Weak transcription	Right Atrium	heart
14	chr2:100429000-100443000	Weak transcription	Aorta	Aorta
15	chr2:100430000-100433200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:100430200-100432200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:100430400-100433000	Weak transcription	Fetal Lung	lung
18	chr2:100430400-100442600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:100430600-100436200	Weak transcription	Ovary	ovary
20	chr2:100431000-100439200	Weak transcription	Fetal Heart	heart

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