Variant report

Variant	rs61137492
Chromosome Location	chr8:62473565-62473566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090754	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10094667	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10097222	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10098174	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10109070	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109585	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10504326	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11785922	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11786232	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13255126	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267956	0.81[ASN][1000 genomes]
rs13269843	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13272256	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1546111	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16927359	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16927364	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16927440	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927444	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16927449	0.95[ASN][1000 genomes]
rs16927497	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1845257	0.80[EUR][1000 genomes]
rs2016441	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2350619	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2444	0.81[ASN][1000 genomes]
rs34026124	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3802287	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824269	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3920015	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4467931	0.80[ASN][1000 genomes]
rs4512374	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4612335	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737589	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738897	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738898	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738899	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738900	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738901	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738902	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738903	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4738905	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738908	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738909	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62526504	0.81[ASN][1000 genomes]
rs6987566	0.89[ASN][1000 genomes]
rs7826255	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7840370	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs976775	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
5	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:62453400-62480200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:62453400-62480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:62456000-62482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:62456000-62482800	Strong transcription	Adipose Nuclei	Adipose
12	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:62456200-62474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
15	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
16	chr8:62456800-62479400	Weak transcription	Psoas Muscle	Psoas
17	chr8:62456800-62482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:62457000-62475400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:62457000-62479600	Weak transcription	NHEK	skin
20	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
22	chr8:62457800-62488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:62458200-62482000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:62458800-62491000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:62459000-62479400	Weak transcription	Aorta	Aorta
27	chr8:62459200-62476200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:62463000-62474200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:62463000-62474600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:62463000-62474600	Strong transcription	NHLF	lung
32	chr8:62463000-62475200	Strong transcription	A549	lung
33	chr8:62463400-62476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:62463800-62479200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:62463800-62481200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:62464000-62480400	Weak transcription	Lung	lung
37	chr8:62464000-62492400	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:62464000-62492600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
40	chr8:62464200-62479000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:62464400-62492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:62464600-62478200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:62465000-62479600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:62465000-62488400	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:62465000-62488600	Weak transcription	Brain Anterior Caudate	brain
46	chr8:62466400-62474600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:62466600-62490200	Weak transcription	K562	blood
48	chr8:62466800-62479000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
50	chr8:62467200-62487400	Weak transcription	Rectal Mucosa Donor 29	rectum

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