Variant report

Variant	rs4688053
Chromosome Location	chr3:119725016-119725017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10433404	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10934502	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10934503	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10934505	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10934506	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10934507	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11915717	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12054090	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12108149	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12629015	0.82[AFR][1000 genomes]
rs12630829	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12632325	0.85[EUR][1000 genomes]
rs12634476	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12634889	0.82[EUR][1000 genomes]
rs12635018	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12638973	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1574154	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1870931	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1980718	0.82[EUR][1000 genomes]
rs28831519	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4340737	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4688042	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4688046	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688047	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4688054	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688059	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58863896	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60235167	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264734	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62264739	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264742	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264743	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62264747	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62264749	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62266274	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62266277	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62266281	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6797459	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7633279	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7639388	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119693600-119732200	Weak transcription	A549	lung
2	chr3:119710200-119730800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:119711400-119729200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:119712000-119732200	Weak transcription	HepG2	liver
5	chr3:119712200-119732400	Weak transcription	NHLF	lung
6	chr3:119712600-119745000	Weak transcription	Hela-S3	cervix
7	chr3:119712800-119732200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:119713200-119744400	Weak transcription	Fetal Kidney	kidney
9	chr3:119717400-119730200	Weak transcription	Brain Anterior Caudate	brain
10	chr3:119717600-119732200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:119718200-119736800	Weak transcription	Liver	Liver
12	chr3:119719000-119729800	Weak transcription	Brain Substantia Nigra	brain
13	chr3:119719600-119730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:119720200-119731800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:119720200-119736600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:119720200-119741000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:119720400-119729600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:119720400-119730400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:119720400-119737200	Weak transcription	NHDF-Ad	bronchial
20	chr3:119720800-119730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:119720800-119738600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:119721000-119731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:119721000-119731200	Weak transcription	Fetal Lung	lung
24	chr3:119721400-119733600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:119722800-119725200	Weak transcription	Stomach Mucosa	stomach
26	chr3:119723000-119730000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:119723200-119730000	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:119723200-119734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:119723200-119736200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:119723400-119730400	Weak transcription	Small Intestine	intestine
31	chr3:119723400-119731800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:119723600-119729800	Weak transcription	Left Ventricle	heart
33	chr3:119723600-119731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:119723600-119731800	Weak transcription	Right Ventricle	heart
35	chr3:119723600-119740600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:119724000-119730000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:119724000-119731200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:119724000-119736800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:119724000-119738200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:119724000-119741400	Weak transcription	Thymus	Thymus
41	chr3:119724200-119729200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:119724200-119734600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:119724400-119731400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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