Variant report

Variant	rs67463566
Chromosome Location	chr8:62480629-62480630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10435605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985683	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985769	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927489	0.92[EUR][1000 genomes]
rs16927563	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16927568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927574	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17791091	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3802288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4322002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4379440	0.92[EUR][1000 genomes]
rs55767984	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58048003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59943109	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61226013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66559425	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67425465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67933413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72657075	0.81[EUR][1000 genomes]
rs72657100	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72657101	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72659004	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72659008	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822584	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:84 , 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	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:62453400-62480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:62456000-62482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:62456000-62482800	Strong transcription	Adipose Nuclei	Adipose
10	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
12	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
13	chr8:62456800-62482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
16	chr8:62457800-62488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:62458200-62482000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:62458800-62491000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:62463800-62481200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:62464000-62492400	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:62464000-62492600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
25	chr8:62464400-62492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:62465000-62488400	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:62465000-62488600	Weak transcription	Brain Anterior Caudate	brain
28	chr8:62466600-62490200	Weak transcription	K562	blood
29	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
30	chr8:62467200-62487400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:62467600-62492600	Weak transcription	Spleen	Spleen
32	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
33	chr8:62470000-62484800	Weak transcription	Gastric	stomach
34	chr8:62470800-62491600	Weak transcription	Fetal Brain Female	brain
35	chr8:62472800-62488200	Weak transcription	Fetal Intestine Small	intestine
36	chr8:62473000-62490600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:62473400-62484800	Weak transcription	HSMM	muscle
38	chr8:62473800-62481800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:62474800-62493400	Weak transcription	HMEC	breast
40	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
41	chr8:62476200-62492200	Weak transcription	Brain Germinal Matrix	brain
42	chr8:62476400-62485400	Strong transcription	A549	lung
43	chr8:62476600-62488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:62476800-62482000	Strong transcription	Osteobl	bone
45	chr8:62477000-62481600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:62477200-62483000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:62477400-62481000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:62477400-62481000	Strong transcription	Liver	Liver
49	chr8:62477400-62481800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:62477400-62482400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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