Variant report

Variant	rs1398443
Chromosome Location	chr12:85838470-85838471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10862982	0.96[ASN][1000 genomes]
rs10863013	0.92[EUR][1000 genomes]
rs10863014	0.92[EUR][1000 genomes]
rs11116805	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11116806	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11116808	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11116812	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11116815	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11116830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11116852	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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]
rs12227817	0.97[EUR][1000 genomes]
rs12228112	0.97[EUR][1000 genomes]
rs12230759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230925	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	0.91[ASN][1000 genomes]
rs1355648	0.83[AFR][1000 genomes]
rs1512728	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1512729	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1533222	0.81[AFR][1000 genomes]
rs1849384	0.94[ASN][1000 genomes]
rs1913137	0.84[ASN][1000 genomes]
rs1983264	0.96[ASN][1000 genomes]
rs2063574	0.93[ASN][1000 genomes]
rs2203199	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405253	0.92[EUR][1000 genomes]
rs3884595	0.97[EUR][1000 genomes]
rs55897040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.96[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[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59788521	0.97[EUR][1000 genomes]
rs59846618	0.97[EUR][1000 genomes]
rs60202749	0.92[EUR][1000 genomes]
rs60552633	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60683378	0.97[EUR][1000 genomes]
rs6539894	0.96[ASN][1000 genomes]
rs7137284	0.97[EUR][1000 genomes]
rs7138754	0.96[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	0.89[ASN][1000 genomes]
rs7311798	0.89[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	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74112008	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74112009	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74112028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74112030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74112031	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74112083	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74112086	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[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	0.96[ASN][1000 genomes]
rs7486870	0.97[EUR][1000 genomes]
rs7486887	0.97[EUR][1000 genomes]
rs7486989	0.97[EUR][1000 genomes]
rs7489034	0.97[EUR][1000 genomes]
rs7952944	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7958126	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7961629	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961781	0.80[AFR][1000 genomes]
rs7962396	0.91[ASN][1000 genomes]
rs7963815	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7966534	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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:4 , 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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85833800-85839000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:85833800-85839000	Weak transcription	Colonic Mucosa	Colon
3	chr12:85835200-85838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:85835600-85838800	Weak transcription	A549	lung
5	chr12:85836000-85838800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:85836000-85839000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:85836000-85839000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:85836000-85839000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:85836200-85839000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:85836800-85839000	Weak transcription	Rectal Mucosa Donor 31	rectum

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