Variant report

Variant	rs6042069
Chromosome Location	chr20:13377756-13377757
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1024208	1.00[JPT][hapmap]
rs1028849	1.00[JPT][hapmap]
rs12329620	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479480	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12479483	1.00[ASN][1000 genomes]
rs12479520	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12479594	1.00[JPT][hapmap]
rs12479849	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12480005	1.00[ASN][1000 genomes]
rs12480101	1.00[ASN][1000 genomes]
rs12480217	1.00[ASN][1000 genomes]
rs12480263	1.00[ASN][1000 genomes]
rs12480266	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480276	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480277	1.00[JPT][hapmap]
rs12480285	1.00[ASN][1000 genomes]
rs12480457	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12480493	1.00[ASN][1000 genomes]
rs12480587	1.00[JPT][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	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008702	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038437	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145139	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145140	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327755	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[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]
rs55940819	0.83[EUR][1000 genomes]
rs57675086	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57873080	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58129464	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59051161	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59299264	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59388287	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033689	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033693	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033694	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6033695	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033699	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033702	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033703	0.85[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033704	0.85[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033706	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033708	0.85[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033712	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033714	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033716	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033718	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042061	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042063	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042068	0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042075	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042077	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042079	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042081	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042082	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042083	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042084	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042086	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042087	0.82[EUR][1000 genomes]
rs6042089	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042095	1.00[ASN][1000 genomes]
rs6042101	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042107	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042108	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042111	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042113	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042116	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042120	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042121	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042123	0.97[EUR][1000 genomes]
rs6042130	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042136	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042142	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6042143	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042145	0.82[CEU][hapmap]
rs6042152	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6042154	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs6042212	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6105082	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105083	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105088	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105089	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105092	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105093	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105094	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105097	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105105	0.97[EUR][1000 genomes]
rs6105108	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105109	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109848	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6109849	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109850	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6109859	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109863	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109866	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109868	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109869	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6109870	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109871	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109872	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109873	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109879	0.97[EUR][1000 genomes]
rs6109883	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109885	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6109886	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109888	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109895	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109896	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109900	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109901	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109902	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109904	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61151551	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518689	0.97[EUR][1000 genomes]
rs61612076	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274078	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs73264980	1.00[ASN][1000 genomes]
rs7348566	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901179	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119260	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8121784	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs927122	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
3	chr20:13364600-13379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr20:13367200-13378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:13368600-13378400	Weak transcription	GM12878-XiMat	blood
7	chr20:13368600-13382400	Weak transcription	HMEC	breast
8	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr20:13368800-13392200	Weak transcription	Aorta	Aorta
10	chr20:13369000-13411200	Strong transcription	Dnd41	blood
11	chr20:13369400-13380200	Weak transcription	Psoas Muscle	Psoas
12	chr20:13369400-13397000	Weak transcription	Primary B cells from cord blood	blood
13	chr20:13369400-13397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr20:13369600-13397000	Weak transcription	Fetal Thymus	thymus
15	chr20:13370000-13378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr20:13370000-13382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:13371400-13413600	Weak transcription	Ovary	ovary
18	chr20:13371800-13397200	Weak transcription	Primary T cells from cord blood	blood
19	chr20:13372000-13382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:13372000-13395800	Weak transcription	HepG2	liver
21	chr20:13372000-13396400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr20:13372000-13397400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr20:13372000-13397400	Weak transcription	Left Ventricle	heart
24	chr20:13372000-13397400	Weak transcription	Thymus	Thymus
25	chr20:13372200-13381400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:13374200-13380600	Weak transcription	Spleen	Spleen
27	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr20:13374400-13380400	Weak transcription	Fetal Lung	lung
29	chr20:13374400-13382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:13374400-13382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:13374400-13384000	Weak transcription	Pancreas	Pancrea
32	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:13374600-13397400	Weak transcription	Fetal Intestine Small	intestine
34	chr20:13374600-13399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
36	chr20:13375800-13378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr20:13375800-13379200	Enhancers	HSMM	muscle
38	chr20:13375800-13379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:13376000-13379200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr20:13376400-13378800	Enhancers	HSMMtube	muscle
41	chr20:13376400-13379000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:13376600-13378400	Enhancers	Stomach Smooth Muscle	stomach
43	chr20:13376600-13378600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr20:13376800-13378200	Enhancers	Fetal Heart	heart
45	chr20:13376800-13378600	Enhancers	Osteobl	bone
46	chr20:13376800-13381600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr20:13377200-13379000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr20:13377400-13379400	Enhancers	Colon Smooth Muscle	Colon
49	chr20:13377600-13377800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr20:13377600-13377800	Enhancers	NHDF-Ad	bronchial

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