Variant report

Variant	rs7138160
Chromosome Location	chr12:29444580-29444581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11050171	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11050234	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11050237	0.86[CHB][hapmap]
rs11050247	0.86[CHB][hapmap]
rs11608561	1.00[AFR][1000 genomes]
rs11609415	0.86[CHB][hapmap]
rs11610542	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11613142	0.82[CEU][hapmap]
rs11614232	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs11614288	0.82[CHB][hapmap]
rs11833098	0.86[CHB][hapmap]
rs1369899	0.86[CHB][hapmap]
rs2012291	0.91[EUR][1000 genomes]
rs2042512	0.86[CHB][hapmap]
rs2288127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782512	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4280037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992973	0.81[EUR][1000 genomes]
rs55805826	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161636	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487810	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487827	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7138552	0.86[CHB][hapmap]
rs7139305	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs7294517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296554	0.86[CHB][hapmap]
rs7301354	0.86[CHB][hapmap]
rs7302549	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7302700	0.86[CHB][hapmap]
rs7309876	0.86[CHB][hapmap]
rs7310802	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311051	1.00[CHB][hapmap]
rs7312547	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs7314716	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7953090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953181	0.86[CHB][hapmap]
rs7967676	0.82[CEU][hapmap]
rs7977826	0.85[CHB][hapmap]
rs7978026	0.86[CHB][hapmap]

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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
3	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29427000-29452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
7	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:29432800-29445800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:29434200-29449600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:29435400-29467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:29437600-29451600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:29439600-29464000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:29439600-29469400	Weak transcription	NH-A	brain
16	chr12:29443400-29460200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:29443800-29446800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:29443800-29452200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:29444000-29451600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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