Variant report

Variant	rs6109849
Chromosome Location	chr20:13368282-13368283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs12329620	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479480	1.00[ASN][1000 genomes]
rs12479483	1.00[ASN][1000 genomes]
rs12479520	1.00[ASN][1000 genomes]
rs12479849	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	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480276	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480285	1.00[ASN][1000 genomes]
rs12480457	1.00[ASN][1000 genomes]
rs12480493	1.00[ASN][1000 genomes]
rs12480587	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	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038437	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145139	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145140	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327755	0.89[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	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57873080	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58023165	0.82[AMR][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	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59388287	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033690	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033693	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033694	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6033695	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033699	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033702	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033703	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033704	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033706	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033708	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033712	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033714	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033716	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033718	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042061	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042063	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042068	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6042069	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042075	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042076	0.94[AMR][1000 genomes]
rs6042077	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042079	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042080	0.94[AMR][1000 genomes]
rs6042081	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042082	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042083	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042084	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	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042093	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042095	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6042101	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042105	0.88[AMR][1000 genomes]
rs6042107	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042108	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042111	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042113	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042116	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042120	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042121	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042123	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6042130	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042136	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042142	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6042143	0.83[EUR][1000 genomes]
rs6042145	0.88[AMR][1000 genomes]
rs6042151	0.88[AMR][1000 genomes]
rs6042152	0.82[EUR][1000 genomes]
rs6042154	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6105082	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105083	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105088	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105089	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105091	0.82[AMR][1000 genomes]
rs6105092	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105093	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105094	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105095	0.82[AMR][1000 genomes]
rs6105097	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105105	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6105108	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105109	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109848	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6109850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6109859	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109863	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109866	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109867	0.82[AMR][1000 genomes]
rs6109868	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109869	1.00[ASN][1000 genomes]
rs6109870	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109871	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109872	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109873	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109879	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6109882	0.88[AMR][1000 genomes]
rs6109883	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109885	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6109886	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109888	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109889	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109895	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109896	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109900	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109901	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109902	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109904	0.82[EUR][1000 genomes]
rs61151551	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518689	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61612076	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274078	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73264980	1.00[ASN][1000 genomes]
rs7348566	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901179	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119260	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8121784	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs927122	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653627	0.82[AMR][1000 genomes];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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13361800-13369400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr20:13362400-13370600	Weak transcription	HepG2	liver
3	chr20:13362600-13374000	Weak transcription	Fetal Lung	lung
4	chr20:13362600-13376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:13362800-13368400	Weak transcription	A549	lung
6	chr20:13362800-13368400	Weak transcription	NHEK	skin
7	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:13363200-13377400	Weak transcription	Fetal Brain Female	brain
9	chr20:13363400-13373200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr20:13363600-13375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:13363600-13375800	Weak transcription	HSMMtube	muscle
12	chr20:13363800-13368800	Weak transcription	Fetal Kidney	kidney
13	chr20:13363800-13373400	Weak transcription	Liver	Liver
14	chr20:13363800-13376200	Weak transcription	Fetal Muscle Leg	muscle
15	chr20:13364000-13377400	Weak transcription	Brain Angular Gyrus	brain
16	chr20:13364200-13368400	Weak transcription	HMEC	breast
17	chr20:13364400-13368600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr20:13364400-13370800	Weak transcription	Fetal Intestine Small	intestine
19	chr20:13364400-13371000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr20:13364400-13376400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
22	chr20:13364600-13368600	Strong transcription	Dnd41	blood
23	chr20:13364600-13371800	Strong transcription	Primary T cells from cord blood	blood
24	chr20:13364600-13374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr20:13364600-13379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr20:13364800-13368400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr20:13364800-13375400	Weak transcription	Colonic Mucosa	Colon
29	chr20:13364800-13377600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr20:13365400-13368400	Weak transcription	GM12878-XiMat	blood
31	chr20:13365400-13373000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr20:13365400-13375800	Weak transcription	HSMM	muscle
33	chr20:13365600-13369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr20:13365600-13370400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:13365600-13376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:13365800-13368600	Strong transcription	Left Ventricle	heart
37	chr20:13366000-13368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:13366200-13368400	Weak transcription	Fetal Stomach	stomach
39	chr20:13366200-13368400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr20:13366200-13370800	Weak transcription	Lung	lung
41	chr20:13366200-13373600	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:13366200-13373800	Weak transcription	Esophagus	oesophagus
43	chr20:13366600-13368400	Weak transcription	Thymus	Thymus
44	chr20:13366600-13370600	Weak transcription	Gastric	stomach
45	chr20:13366600-13375600	Weak transcription	Fetal Intestine Large	intestine
46	chr20:13366800-13368400	Weak transcription	Aorta	Aorta
47	chr20:13366800-13368400	Weak transcription	Ovary	ovary
48	chr20:13366800-13370600	Weak transcription	Adipose Nuclei	Adipose
49	chr20:13366800-13375800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:13367000-13368800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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