Variant report

Variant	rs62256962
Chromosome Location	chr3:53337444-53337445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10433617	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10433618	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1108506	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551405	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030933	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17030934	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17234771	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17235667	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41275543	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56654807	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58558806	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59145995	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252819	0.81[AMR][1000 genomes]
rs62255989	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62255993	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62255994	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62255999	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256000	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256003	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256009	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256043	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256050	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62256053	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256964	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256965	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256966	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256968	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256969	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257004	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257007	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257009	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257011	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62257013	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62257024	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6780100	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73080266	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080273	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080295	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73082274	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7622159	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9830594	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9830895	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9846315	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9850440	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9864057	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53315200-53338400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr3:53316400-53337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:53316600-53338600	Strong transcription	Fetal Muscle Leg	muscle
5	chr3:53318000-53345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:53318000-53345800	Weak transcription	Stomach Mucosa	stomach
7	chr3:53321800-53347600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:53322400-53343600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:53322400-53344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:53322400-53353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:53323600-53339400	Strong transcription	Fetal Intestine Large	intestine
12	chr3:53324000-53340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:53326600-53337600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:53326600-53342400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:53326800-53337600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:53327000-53337600	Weak transcription	Brain Anterior Caudate	brain
18	chr3:53327200-53358200	Weak transcription	K562	blood
19	chr3:53328000-53347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:53329200-53339200	Strong transcription	HUVEC	blood vessel
21	chr3:53330000-53343400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:53330600-53340600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:53331400-53340200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:53331600-53339200	Strong transcription	Primary T cells from cord blood	blood
25	chr3:53331600-53349000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:53331800-53338200	Strong transcription	Fetal Lung	lung
27	chr3:53332000-53338200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr3:53332200-53337600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:53333000-53338400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:53333200-53339800	Weak transcription	Hela-S3	cervix
32	chr3:53333400-53342600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:53333600-53337600	Weak transcription	HSMMtube	muscle
34	chr3:53333600-53337600	Weak transcription	NHEK	skin
35	chr3:53333600-53341400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:53333600-53342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:53333600-53344800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:53334000-53338600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:53334000-53344200	Strong transcription	Fetal Intestine Small	intestine
40	chr3:53334200-53338000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:53334400-53347400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr3:53334600-53338000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr3:53334600-53338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:53334600-53338800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:53334600-53338800	Strong transcription	Placenta	Placenta
46	chr3:53334600-53347200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr3:53334600-53347600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:53334600-53355200	Strong transcription	Fetal Stomach	stomach
49	chr3:53334600-53358400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:53334800-53337600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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