Variant report

Variant	rs62510193
Chromosome Location	chr8:117762998-117762999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12548885	1.00[AFR][1000 genomes]
rs16888870	1.00[AFR][1000 genomes]
rs17805852	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2921757	1.00[AFR][1000 genomes]
rs2921775	1.00[AFR][1000 genomes]
rs2921780	1.00[AFR][1000 genomes]
rs2921781	1.00[AFR][1000 genomes]
rs2921786	1.00[AFR][1000 genomes]
rs2921789	1.00[AFR][1000 genomes]
rs2921791	1.00[AFR][1000 genomes]
rs3020109	1.00[AFR][1000 genomes]
rs3020124	1.00[AFR][1000 genomes]
rs62510172	0.92[EUR][1000 genomes]
rs62510184	1.00[EUR][1000 genomes]
rs62510188	1.00[EUR][1000 genomes]
rs62510189	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683604	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv3334834	chr8:117760370-117763024	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3443500	chr8:117761071-117763569	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3430552	chr8:117762521-117764519	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
2	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
4	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
15	chr8:117738400-117764200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:117739000-117766000	Weak transcription	Liver	Liver
17	chr8:117741000-117766800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:117741200-117764400	Weak transcription	HepG2	liver
19	chr8:117741200-117767400	Weak transcription	Aorta	Aorta
20	chr8:117742800-117766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:117742800-117767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:117744000-117766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:117744200-117766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:117744400-117766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:117745600-117766600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:117745600-117766800	Weak transcription	Right Ventricle	heart
27	chr8:117745800-117765800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:117748000-117764000	Weak transcription	HMEC	breast
29	chr8:117748200-117767000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:117748200-117767400	Weak transcription	Lung	lung
31	chr8:117748400-117766800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:117748600-117763600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:117748800-117765800	Weak transcription	HUVEC	blood vessel
34	chr8:117748800-117766800	Weak transcription	Psoas Muscle	Psoas
35	chr8:117749000-117766800	Weak transcription	Fetal Intestine Large	intestine
36	chr8:117752600-117765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:117752600-117766600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:117752800-117766400	Weak transcription	Small Intestine	intestine
39	chr8:117752800-117766800	Weak transcription	Brain Substantia Nigra	brain
40	chr8:117752800-117766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:117753000-117766000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:117753200-117765800	Weak transcription	NHLF	lung
43	chr8:117753200-117766200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:117753200-117766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:117753200-117766800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:117753200-117766800	Weak transcription	Brain Germinal Matrix	brain
47	chr8:117753200-117766800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:117753200-117766800	Weak transcription	HSMM	muscle
49	chr8:117753200-117766800	Weak transcription	NHDF-Ad	bronchial
50	chr8:117753200-117767200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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