Variant report

Variant	rs761472
Chromosome Location	chr20:11210822-11210823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1473700	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1473701	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1473702	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1473703	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2015108	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076643	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2076644	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2076645	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076646	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076647	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143857	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2143859	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2179827	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207098	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2207099	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2207100	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2223858	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2327366	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2327368	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2876220	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2876221	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35609472	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4384859	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4435520	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4449208	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4632419	0.89[ASN][1000 genomes]
rs4643605	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813966	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813967	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813968	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813969	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813970	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813971	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813972	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6033062	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033063	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033066	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6033067	0.84[ASN][1000 genomes]
rs6033068	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6033069	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6033070	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6033071	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6033072	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040435	0.89[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6040436	0.89[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6040442	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6040446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040452	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040456	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6040458	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040459	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040460	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040461	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040463	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040464	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040465	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040466	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040469	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040470	0.88[ASN][1000 genomes]
rs6040471	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040472	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040473	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040474	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040475	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040477	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040479	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040480	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040481	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040482	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040486	0.84[EUR][1000 genomes]
rs6040487	0.80[EUR][1000 genomes]
rs6040489	0.84[EUR][1000 genomes]
rs6040490	0.82[EUR][1000 genomes]
rs6078105	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6078109	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6104726	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6108870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6108871	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6108872	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108876	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6108882	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs714690	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs714691	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs714692	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761471	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926725	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983251	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs983252	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs983342	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs983343	0.94[AMR][1000 genomes];0.95[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1056067	chr20:11174581-11213919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11207600-11216400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:11208800-11211800	Enhancers	Fetal Muscle Leg	muscle
3	chr20:11209200-11211000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:11209200-11211000	Enhancers	Brain Hippocampus Middle	brain
5	chr20:11209200-11211000	Enhancers	Right Atrium	heart
6	chr20:11209200-11211000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr20:11209200-11211200	Enhancers	Osteobl	bone
8	chr20:11209200-11211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:11209400-11211000	Enhancers	Brain Angular Gyrus	brain
10	chr20:11209400-11211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:11209400-11214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:11209600-11211200	Enhancers	NH-A	brain
13	chr20:11209600-11214600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr20:11210000-11211200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:11210200-11211000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:11210200-11211000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:11210200-11211000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr20:11210200-11211000	Enhancers	HSMM	muscle
19	chr20:11210200-11211200	Enhancers	A549	lung
20	chr20:11210200-11211200	Enhancers	NHLF	lung
21	chr20:11210200-11211800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:11210200-11211800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:11210200-11211800	Enhancers	HMEC	breast
24	chr20:11210200-11211800	Enhancers	HUVEC	blood vessel
25	chr20:11210200-11212000	Enhancers	NHEK	skin
26	chr20:11210400-11211000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:11210400-11211000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:11210400-11211000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:11210400-11211000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:11210400-11211000	Enhancers	Brain Anterior Caudate	brain
31	chr20:11210400-11211000	Enhancers	Fetal Intestine Large	intestine
32	chr20:11210400-11211000	Enhancers	Fetal Kidney	kidney
33	chr20:11210400-11211000	Enhancers	Ovary	ovary
34	chr20:11210400-11211000	Enhancers	Stomach Mucosa	stomach
35	chr20:11210400-11211000	Flanking Active TSS	Hela-S3	cervix
36	chr20:11210400-11211000	Enhancers	HSMMtube	muscle
37	chr20:11210400-11212200	Enhancers	Fetal Lung	lung
38	chr20:11210600-11211000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr20:11210600-11212600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:11210600-11212800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:11210600-11213000	Weak transcription	Psoas Muscle	Psoas
42	chr20:11210800-11211000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr20:11210800-11211000	Enhancers	NHDF-Ad	bronchial
44	chr20:11210800-11211200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:11210800-11211200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:11210800-11212200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr20:11210800-11212600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr20:11210800-11212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:11210800-11212600	Weak transcription	Brain Substantia Nigra	brain
50	chr20:11210800-11212600	Weak transcription	Fetal Muscle Trunk	muscle

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