Variant report

Variant	rs12230925
Chromosome Location	chr12:85858820-85858821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10862982	0.98[ASN][1000 genomes]
rs10863013	0.92[EUR][1000 genomes]
rs10863014	0.92[EUR][1000 genomes]
rs11116772	0.85[CEU][hapmap]
rs11116805	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11116806	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11116808	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11116812	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11116815	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11116830	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11116852	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11116861	0.97[EUR][1000 genomes]
rs11116866	0.97[EUR][1000 genomes]
rs11116867	0.97[EUR][1000 genomes]
rs11116868	0.97[EUR][1000 genomes]
rs11116869	0.97[EUR][1000 genomes]
rs11116870	0.93[EUR][1000 genomes]
rs11116873	0.97[EUR][1000 genomes]
rs11116874	0.97[EUR][1000 genomes]
rs11116875	0.92[EUR][1000 genomes]
rs11116876	0.97[EUR][1000 genomes]
rs11116880	0.97[EUR][1000 genomes]
rs11116881	0.97[EUR][1000 genomes]
rs11116882	0.97[EUR][1000 genomes]
rs11116884	0.97[EUR][1000 genomes]
rs11116885	0.97[EUR][1000 genomes]
rs11116887	0.90[EUR][1000 genomes]
rs11116889	0.97[EUR][1000 genomes]
rs11116890	0.97[EUR][1000 genomes]
rs11116892	0.97[EUR][1000 genomes]
rs11116895	0.97[EUR][1000 genomes]
rs11116896	0.97[EUR][1000 genomes]
rs11116898	0.97[EUR][1000 genomes]
rs11116899	0.97[EUR][1000 genomes]
rs11116920	0.92[EUR][1000 genomes]
rs11116932	0.92[EUR][1000 genomes]
rs11116950	0.85[CEU][hapmap]
rs12227817	0.97[EUR][1000 genomes]
rs12228112	0.97[EUR][1000 genomes]
rs12230759	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231153	0.92[EUR][1000 genomes]
rs12231156	0.92[EUR][1000 genomes]
rs12231815	0.92[EUR][1000 genomes]
rs12231930	0.97[EUR][1000 genomes]
rs12317867	0.85[ASN][1000 genomes]
rs1398443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512728	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1512729	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1849384	0.96[ASN][1000 genomes]
rs1913137	0.85[ASN][1000 genomes]
rs1983264	0.98[ASN][1000 genomes]
rs2063574	0.87[ASN][1000 genomes]
rs2203199	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2405253	0.92[EUR][1000 genomes]
rs3884595	0.97[EUR][1000 genomes]
rs55897040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55897445	0.92[EUR][1000 genomes]
rs56251198	1.00[EUR][1000 genomes]
rs57059247	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57527697	0.90[EUR][1000 genomes]
rs57608040	0.97[EUR][1000 genomes]
rs57741929	0.92[EUR][1000 genomes]
rs58809157	0.92[EUR][1000 genomes]
rs59312748	0.92[EUR][1000 genomes]
rs59403304	0.97[EUR][1000 genomes]
rs59712244	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59788521	0.97[EUR][1000 genomes]
rs59846618	0.97[EUR][1000 genomes]
rs60202749	0.92[EUR][1000 genomes]
rs60552633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60683378	0.97[EUR][1000 genomes]
rs6539894	0.98[ASN][1000 genomes]
rs7137284	0.97[EUR][1000 genomes]
rs7138754	0.98[ASN][1000 genomes]
rs7297228	1.00[EUR][1000 genomes]
rs7300664	1.00[EUR][1000 genomes]
rs7304792	0.97[EUR][1000 genomes]
rs7308668	1.00[EUR][1000 genomes]
rs7311781	0.91[ASN][1000 genomes]
rs7311798	0.91[ASN][1000 genomes]
rs73367235	0.97[EUR][1000 genomes]
rs73367237	0.97[EUR][1000 genomes]
rs73367241	0.97[EUR][1000 genomes]
rs73367246	0.97[EUR][1000 genomes]
rs73367251	0.90[EUR][1000 genomes]
rs73367261	0.97[EUR][1000 genomes]
rs73367266	0.97[EUR][1000 genomes]
rs73367273	0.97[EUR][1000 genomes]
rs73368476	0.97[EUR][1000 genomes]
rs73368490	0.97[EUR][1000 genomes]
rs73368493	0.97[EUR][1000 genomes]
rs73370465	0.92[EUR][1000 genomes]
rs74112007	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74112008	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74112009	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74112028	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74112030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74112031	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74112083	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74112086	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74112222	0.97[EUR][1000 genomes]
rs74112251	0.97[EUR][1000 genomes]
rs74112259	0.97[EUR][1000 genomes]
rs74112289	0.92[EUR][1000 genomes]
rs7484736	0.97[EUR][1000 genomes]
rs7485150	0.97[EUR][1000 genomes]
rs7485219	0.97[EUR][1000 genomes]
rs7486781	0.98[ASN][1000 genomes]
rs7486870	0.97[EUR][1000 genomes]
rs7486887	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7486989	0.97[EUR][1000 genomes]
rs7489034	0.97[EUR][1000 genomes]
rs7952944	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7958126	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7961629	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7962396	0.85[ASN][1000 genomes]
rs7963815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7966534	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7972133	0.97[EUR][1000 genomes]
rs7976869	1.00[EUR][1000 genomes]
rs9783419	1.00[EUR][1000 genomes]
rs9783509	1.00[EUR][1000 genomes]
rs9783510	1.00[EUR][1000 genomes]
rs9783520	1.00[EUR][1000 genomes]
rs9943733	0.92[EUR][1000 genomes]
rs9943736	0.92[EUR][1000 genomes]
rs9943770	0.92[EUR][1000 genomes]
rs9943779	0.92[EUR][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	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv817242	chr12:85622245-86069213	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1053044	chr12:85843030-85942504	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1036617	chr12:85855093-86010549	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:85851400-85859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:85855600-85859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:85856600-85859600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:85856600-85859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:85857200-85861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:85858200-85860000	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:85858400-85859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:85858600-85859000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:85858600-85859000	Enhancers	HSMMtube	muscle
10	chr12:85858600-85859600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:85858600-85859600	Enhancers	NH-A	brain
12	chr12:85858600-85860400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:85858600-85861400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:85858600-85862600	Enhancers	HSMM	muscle
15	chr12:85858600-85862600	Enhancers	NHEK	skin
16	chr12:85858600-85863000	Enhancers	HMEC	breast
17	chr12:85858800-85859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:85858800-85859600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:85858800-85860000	Enhancers	Fetal Kidney	kidney
20	chr12:85858800-85860800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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