Variant report

Variant	rs7012700
Chromosome Location	chr8:62462931-62462932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13282653	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2640233	0.89[EUR][1000 genomes]
rs2640234	0.89[EUR][1000 genomes]
rs2640236	0.89[EUR][1000 genomes]
rs2640238	0.89[EUR][1000 genomes]
rs2640240	0.89[EUR][1000 genomes]
rs4620280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4738904	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6471957	0.89[EUR][1000 genomes]
rs6980640	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7005617	0.89[EUR][1000 genomes]
rs7010694	1.00[EUR][1000 genomes]
rs7013514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7017540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs938688	0.95[EUR][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:93 , 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	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
5	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
8	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
9	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
10	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
11	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
12	chr8:62440800-62463000	Weak transcription	Pancreas	Pancrea
13	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:62449800-62463000	Weak transcription	Lung	lung
15	chr8:62449800-62463200	Weak transcription	HUVEC	blood vessel
16	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:62451400-62467000	Weak transcription	Placenta	Placenta
18	chr8:62451600-62473200	Weak transcription	Fetal Kidney	kidney
19	chr8:62452600-62469600	Strong transcription	HSMM	muscle
20	chr8:62453400-62466400	Weak transcription	Gastric	stomach
21	chr8:62453400-62480200	Weak transcription	Primary T cells from cord blood	blood
22	chr8:62453400-62480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:62453600-62463400	Weak transcription	Fetal Stomach	stomach
24	chr8:62454400-62468400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:62456000-62482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:62456000-62482800	Strong transcription	Adipose Nuclei	Adipose
27	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:62456200-62474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:62456400-62468800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:62456600-62463200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:62456600-62466400	Weak transcription	Fetal Brain Female	brain
32	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
33	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
34	chr8:62456800-62463000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:62456800-62463200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:62456800-62463400	Weak transcription	Fetal Lung	lung
37	chr8:62456800-62467800	Weak transcription	Hela-S3	cervix
38	chr8:62456800-62479400	Weak transcription	Psoas Muscle	Psoas
39	chr8:62456800-62482200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:62457000-62464200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:62457000-62475400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:62457000-62479600	Weak transcription	NHEK	skin
43	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
45	chr8:62457400-62464000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:62457600-62463200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:62457800-62463000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:62457800-62488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:62458000-62463000	Weak transcription	Left Ventricle	heart
50	chr8:62458000-62463000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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