Variant report

Variant	rs10841515
Chromosome Location	chr12:20573236-20573237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10505865	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10732533	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10732534	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10734701	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743369	1.00[ASN][1000 genomes]
rs10743372	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10743373	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10743374	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10770651	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10770653	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10770654	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10770655	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841512	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11045224	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11045225	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11045226	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11045227	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11045228	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12370696	1.00[ASN][1000 genomes]
rs12370745	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12370763	0.93[EUR][1000 genomes]
rs12372457	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1348583	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1373572	1.00[ASN][1000 genomes]
rs1373573	1.00[ASN][1000 genomes]
rs1444628	0.94[EUR][1000 genomes]
rs1444629	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1444631	1.00[ASN][1000 genomes]
rs1444633	1.00[ASN][1000 genomes]
rs1444634	0.91[EUR][1000 genomes]
rs1444635	0.93[EUR][1000 genomes]
rs1444643	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1444644	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1444645	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1444646	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530445	1.00[ASN][1000 genomes]
rs1822751	1.00[ASN][1000 genomes]
rs1822752	1.00[ASN][1000 genomes]
rs1822753	1.00[ASN][1000 genomes]
rs1822756	1.00[ASN][1000 genomes]
rs1838447	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1838448	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2417850	1.00[ASN][1000 genomes]
rs3919734	1.00[ASN][1000 genomes]
rs4762752	1.00[ASN][1000 genomes]
rs4762951	1.00[ASN][1000 genomes]
rs4762955	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5007546	1.00[ASN][1000 genomes]
rs5014033	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014034	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014035	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014036	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014037	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014038	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5014039	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5014040	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6487083	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6487084	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6487085	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6487086	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7133921	1.00[ASN][1000 genomes]
rs71450706	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7299430	1.00[ASN][1000 genomes]
rs7310385	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7314448	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7954501	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7957567	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7964191	1.00[ASN][1000 genomes]
rs7964703	1.00[ASN][1000 genomes]
rs7967538	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7979838	1.00[ASN][1000 genomes]
rs978349	0.93[EUR][1000 genomes]
rs9805045	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20556600-20582400	Weak transcription	Osteobl	bone
2	chr12:20558600-20588000	Weak transcription	HUVEC	blood vessel
3	chr12:20559800-20577800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20562800-20573400	Weak transcription	Fetal Kidney	kidney
5	chr12:20564800-20573800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:20566800-20576200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:20567200-20574400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:20568200-20588600	Weak transcription	Small Intestine	intestine
9	chr12:20568600-20588800	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:20568600-20595400	Weak transcription	Pancreas	Pancrea
11	chr12:20568800-20579400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:20569000-20577800	Weak transcription	NHDF-Ad	bronchial
13	chr12:20569200-20573400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:20569200-20574200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:20571400-20573400	Weak transcription	Right Atrium	heart
16	chr12:20571400-20575200	Weak transcription	Psoas Muscle	Psoas
17	chr12:20571600-20574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:20572800-20573600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:20572800-20573800	Enhancers	Left Ventricle	heart
20	chr12:20572800-20575200	Enhancers	Fetal Intestine Large	intestine
21	chr12:20573000-20573400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:20573000-20573600	Enhancers	Right Ventricle	heart
23	chr12:20573000-20574200	Enhancers	Fetal Intestine Small	intestine
24	chr12:20573200-20573400	Active TSS	Colonic Mucosa	Colon
25	chr12:20573200-20573600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:20573200-20573600	Flanking Active TSS	Hela-S3	cervix
27	chr12:20573200-20573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:20573200-20573800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:20573200-20573800	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:20573200-20574800	Enhancers	Colon Smooth Muscle	Colon
31	chr12:20573200-20574800	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:20573200-20577800	Weak transcription	Aorta	Aorta

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