Variant report

Variant	rs1444641
Chromosome Location	chr12:20548843-20548844
allele	C/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:83)

rs_ID	r²[population]
rs10505865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10732533	0.97[ASN][1000 genomes]
rs10732534	0.97[ASN][1000 genomes]
rs10743370	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs10743372	0.97[ASN][1000 genomes]
rs10743373	0.97[ASN][1000 genomes]
rs10743374	0.97[ASN][1000 genomes]
rs10770649	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10770650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10770651	0.98[ASN][1000 genomes]
rs10770652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10770653	0.97[ASN][1000 genomes]
rs10770654	0.94[ASN][1000 genomes]
rs10770656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10841501	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10841509	0.83[ASN][1000 genomes]
rs10841510	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10841512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10841513	0.86[ASN][1000 genomes]
rs10841516	0.86[ASN][1000 genomes]
rs11045203	0.82[ASN][1000 genomes]
rs11045206	0.86[ASN][1000 genomes]
rs11045207	0.86[ASN][1000 genomes]
rs11045211	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11045218	0.86[ASN][1000 genomes]
rs11045220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11045221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11045222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11045223	0.87[ASN][1000 genomes]
rs11045224	0.98[ASN][1000 genomes]
rs11045225	0.98[ASN][1000 genomes]
rs11045226	0.98[ASN][1000 genomes]
rs11045227	0.97[ASN][1000 genomes]
rs11045228	0.97[ASN][1000 genomes]
rs11045230	0.86[ASN][1000 genomes]
rs11045232	0.88[JPT][hapmap]
rs12297116	0.87[ASN][1000 genomes]
rs12370696	0.83[AMR][1000 genomes]
rs12370745	0.97[ASN][1000 genomes]
rs12370763	0.90[ASN][1000 genomes]
rs12372457	0.94[ASN][1000 genomes]
rs1348583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1444628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444634	0.98[ASN][1000 genomes]
rs1444635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444643	0.98[ASN][1000 genomes]
rs1444644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1444646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16922851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1822751	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1838447	0.98[ASN][1000 genomes]
rs1838448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4762950	0.84[EUR][1000 genomes]
rs4762955	0.98[ASN][1000 genomes]
rs5014033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5014034	0.97[ASN][1000 genomes]
rs5014035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5014036	0.97[ASN][1000 genomes]
rs5014037	0.97[ASN][1000 genomes]
rs5014039	0.97[ASN][1000 genomes]
rs5014040	0.97[ASN][1000 genomes]
rs60977432	0.86[ASN][1000 genomes]
rs6487083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6487084	0.97[ASN][1000 genomes]
rs6487085	0.97[ASN][1000 genomes]
rs6487086	0.97[ASN][1000 genomes]
rs7136586	0.87[ASN][1000 genomes]
rs71450706	0.98[ASN][1000 genomes]
rs7299430	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7310385	0.98[ASN][1000 genomes]
rs7314448	0.97[ASN][1000 genomes]
rs7954501	0.98[ASN][1000 genomes]
rs7957567	0.98[ASN][1000 genomes]
rs7964191	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7964703	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7967538	0.98[ASN][1000 genomes]
rs7979838	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs935258	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs978349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9805045	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3435620	chr12:20547685-20549733	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
7	esv3420073	chr12:20548085-20549283	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20550400	Weak transcription	HUVEC	blood vessel
2	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
3	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
4	chr12:20543000-20549200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:20543000-20551000	Weak transcription	A549	lung
6	chr12:20544000-20556000	Weak transcription	Osteobl	bone
7	chr12:20544800-20555800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:20546000-20549200	Weak transcription	Right Ventricle	heart
9	chr12:20548000-20549200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:20548200-20549000	Weak transcription	Fetal Heart	heart
11	chr12:20548200-20550800	Weak transcription	Hela-S3	cervix
12	chr12:20548200-20556000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:20548800-20549000	Enhancers	Fetal Intestine Small	intestine

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