Variant report

Variant	rs12329620
Chromosome Location	chr20:13436988-13436989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1024208	1.00[CEU][hapmap]
rs12479480	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12479483	1.00[ASN][1000 genomes]
rs12479520	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12479594	1.00[CEU][hapmap]
rs12479849	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12480005	1.00[ASN][1000 genomes]
rs12480101	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12480217	1.00[ASN][1000 genomes]
rs12480263	1.00[ASN][1000 genomes]
rs12480266	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480276	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480277	1.00[CEU][hapmap]
rs12480285	1.00[ASN][1000 genomes]
rs12480457	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12480493	1.00[ASN][1000 genomes]
rs12480587	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12480970	1.00[ASN][1000 genomes]
rs12480977	1.00[ASN][1000 genomes]
rs12481227	1.00[ASN][1000 genomes]
rs12481291	1.00[ASN][1000 genomes]
rs12481494	1.00[ASN][1000 genomes]
rs1321297	1.00[ASN][1000 genomes]
rs1535410	1.00[ASN][1000 genomes]
rs1812562	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038437	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145139	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2145140	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327755	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573439	1.00[ASN][1000 genomes]
rs34988299	1.00[ASN][1000 genomes]
rs4471952	1.00[ASN][1000 genomes]
rs4502495	1.00[ASN][1000 genomes]
rs45489891	0.82[EUR][1000 genomes]
rs45602236	0.82[EUR][1000 genomes]
rs57675086	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57873080	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58023165	0.87[AMR][1000 genomes]
rs58129464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59051161	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59299264	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59388287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033689	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033690	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033693	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033694	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6033695	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033699	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033702	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033703	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033704	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033706	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033708	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033712	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033718	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033782	1.00[CEU][hapmap]
rs6042069	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042075	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042077	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042079	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042081	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042082	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042083	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042084	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042086	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042087	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6042089	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042093	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042095	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042105	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6042107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042113	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042121	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042136	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042142	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6042143	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6042145	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6042151	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6042152	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6042154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042212	1.00[CEU][hapmap]
rs6042242	1.00[CEU][hapmap]
rs6105082	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105083	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105088	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105089	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105091	0.87[AMR][1000 genomes]
rs6105092	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105093	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105094	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105095	0.87[AMR][1000 genomes]
rs6105097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6105108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109849	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109850	0.82[AMR][1000 genomes]
rs6109859	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109863	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109866	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109867	0.87[AMR][1000 genomes]
rs6109868	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109869	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109870	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109871	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109872	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109873	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109877	0.82[EUR][1000 genomes]
rs6109879	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6109882	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6109883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6109886	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109888	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109902	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109904	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6109972	1.00[CEU][hapmap]
rs6109985	1.00[CEU][hapmap]
rs61151551	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518689	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61612076	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73264980	1.00[ASN][1000 genomes]
rs7348566	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901179	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927122	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv520595	chr20:13421045-13447896	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13379200-13463000	Weak transcription	HSMM	muscle
2	chr20:13395600-13477800	Weak transcription	Gastric	stomach
3	chr20:13416000-13438200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:13420800-13444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:13421800-13450000	Weak transcription	Fetal Lung	lung
6	chr20:13422000-13460400	Weak transcription	Primary B cells from cord blood	blood
7	chr20:13422000-13461200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr20:13428400-13448800	Weak transcription	Thymus	Thymus
9	chr20:13429800-13437000	Strong transcription	Dnd41	blood
10	chr20:13430000-13467800	Weak transcription	Ovary	ovary
11	chr20:13430200-13467800	Weak transcription	Pancreas	Pancrea
12	chr20:13430400-13442200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr20:13431600-13445000	Weak transcription	Adipose Nuclei	Adipose
14	chr20:13432200-13438400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:13432400-13448800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:13432600-13437400	Enhancers	Liver	Liver
17	chr20:13433800-13452200	Weak transcription	Fetal Intestine Small	intestine
18	chr20:13434000-13444800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr20:13434000-13450000	Weak transcription	Fetal Intestine Large	intestine
20	chr20:13434800-13449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:13435200-13437000	Weak transcription	Aorta	Aorta
22	chr20:13435400-13437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:13435400-13460400	Weak transcription	Fetal Thymus	thymus
24	chr20:13435400-13462000	Weak transcription	Left Ventricle	heart
25	chr20:13435600-13454200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr20:13435600-13460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:13436200-13442600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr20:13436600-13437000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr20:13436600-13437000	Enhancers	HepG2	liver
30	chr20:13436600-13458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:13436600-13460800	Weak transcription	Primary T cells from cord blood	blood
32	chr20:13436800-13437000	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr20:13436800-13440200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr20:13436800-13444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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