Variant report

Variant	rs12230590
Chromosome Location	chr12:67021080-67021081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10748057	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10748058	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10748059	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10784559	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784561	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784562	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784563	0.92[ASN][1000 genomes]
rs10784564	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784565	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784566	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784567	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784568	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784569	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10784570	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10784571	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10878461	0.85[ASN][1000 genomes]
rs10878462	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878463	0.85[ASN][1000 genomes]
rs10878470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878472	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878473	1.00[ASN][1000 genomes]
rs10878478	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878480	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10878481	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10878484	0.84[EUR][1000 genomes]
rs11176311	0.85[ASN][1000 genomes]
rs11176316	0.85[ASN][1000 genomes]
rs11176317	0.85[ASN][1000 genomes]
rs11176318	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176326	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11176332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176335	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176343	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176344	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176345	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11176348	0.92[ASN][1000 genomes]
rs11176349	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176350	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176351	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176352	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176354	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176355	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176356	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11614834	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11615485	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12578666	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12579975	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1493486	0.85[ASN][1000 genomes]
rs17181707	0.85[ASN][1000 genomes]
rs17779486	0.85[ASN][1000 genomes]
rs17779523	0.84[ASN][1000 genomes]
rs1948452	0.85[ASN][1000 genomes]
rs34639740	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4290313	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4414309	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4453317	0.85[ASN][1000 genomes]
rs4489824	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4587801	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4627157	0.85[ASN][1000 genomes]
rs4913406	0.82[ASN][1000 genomes]
rs55743225	0.88[ASN][1000 genomes]
rs57730465	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59153213	0.85[ASN][1000 genomes]
rs59859388	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61926087	0.85[ASN][1000 genomes]
rs61926094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61926104	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61926113	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6581706	0.85[ASN][1000 genomes]
rs7301248	0.84[EUR][1000 genomes]
rs7309000	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7311948	0.85[ASN][1000 genomes]
rs7312025	0.85[ASN][1000 genomes]
rs73127190	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7315608	0.85[ASN][1000 genomes]
rs7315622	0.85[ASN][1000 genomes]
rs7485667	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7953062	0.85[ASN][1000 genomes]
rs7953437	0.95[ASN][1000 genomes]
rs7955693	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67014400-67021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:67015400-67022000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:67018000-67026600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:67018400-67027400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:67018800-67022200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:67019200-67023200	Enhancers	GM12878-XiMat	blood
7	chr12:67020200-67021600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:67020400-67023200	Enhancers	Fetal Thymus	thymus
9	chr12:67020600-67022200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:67020600-67022200	Enhancers	Thymus	Thymus
11	chr12:67020600-67022600	Enhancers	Adipose Nuclei	Adipose
12	chr12:67020800-67021200	Weak transcription	Right Atrium	heart
13	chr12:67020800-67021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:67020800-67021800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:67020800-67022200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:67020800-67022800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:67021000-67021200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:67021000-67021200	Weak transcription	Fetal Brain Male	brain
19	chr12:67021000-67022600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:67021000-67022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:67021000-67023200	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links