Variant report

Variant	rs2042511
Chromosome Location	chr12:29408780-29408781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10047562	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1035604	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771507	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10771508	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10843361	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843366	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843367	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843371	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843373	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843375	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10843377	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10843382	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs10843384	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs10843403	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs11050151	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050152	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050153	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050161	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050162	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050163	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050167	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050170	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11050173	0.84[ASN][1000 genomes]
rs11050181	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs11050187	0.86[ASN][1000 genomes]
rs11050188	0.84[ASN][1000 genomes]
rs11050189	0.86[ASN][1000 genomes]
rs11050191	0.84[ASN][1000 genomes]
rs11050192	0.85[ASN][1000 genomes]
rs11050193	0.81[ASN][1000 genomes]
rs11050194	0.81[ASN][1000 genomes]
rs11050208	0.80[ASN][1000 genomes]
rs11833737	0.87[EUR][1000 genomes]
rs12228468	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12231498	0.84[ASN][1000 genomes]
rs12366505	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12366527	0.86[ASN][1000 genomes]
rs16934135	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs1989478	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1991114	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194518	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194519	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2194520	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2216853	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2216854	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3764953	0.83[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs3782506	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs3782509	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs3782511	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4331146	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs57803026	0.80[ASN][1000 genomes]
rs6487790	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487796	0.84[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487804	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6487805	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs6487808	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs67146951	0.90[ASN][1000 genomes]
rs67150462	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67517901	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131987	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7139273	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs7294598	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7299861	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301188	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.86[ASN][1000 genomes]
rs7301398	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7302129	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308125	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311912	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7312164	0.86[ASN][1000 genomes]
rs7316004	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs737160	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7954278	0.89[ASN][1000 genomes]
rs7954871	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7957339	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7958210	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970390	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973786	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7974221	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7976961	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs918873	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs962866	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs9738721	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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29396800-29413200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:29400800-29411400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:29406400-29410000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:29406800-29409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:29407400-29408800	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:29407400-29409800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29407800-29408800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:29408000-29409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:29408200-29408800	Enhancers	Left Ventricle	heart
10	chr12:29408200-29409200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:29408200-29413000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:29408200-29413400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:29408200-29423200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:29408200-29425800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:29408400-29414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:29408400-29424000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:29408600-29409200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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