Variant report

Variant	rs62510184
Chromosome Location	chr8:117739444-117739445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117737571..117740694-chr8:117744182..117746515,3	MCF-7	breast:
2	chr8:117726723..117730275-chr8:117737114..117740946,5	K562	blood:
3	chr20:45981052..45983962-chr8:117737116..117739473,2	MCF-7	breast:
4	chr8:117739444..117740964-chr8:117750827..117752359,2	K562	blood:
5	chr8:117735311..117740045-chr8:117740226..117743682,7	K562	blood:
6	chr8:117737378..117741486-chr8:117765387..117769431,6	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000101040	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17805852	1.00[EUR][1000 genomes]
rs62510172	0.92[EUR][1000 genomes]
rs62510188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62510189	1.00[EUR][1000 genomes]
rs62510193	1.00[EUR][1000 genomes]
rs62510227	1.00[AMR][1000 genomes]
rs72683604	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117722000-117740800	Weak transcription	NHLF	lung
2	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
3	chr8:117728000-117740800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:117728000-117740800	Weak transcription	Osteobl	bone
5	chr8:117728600-117740400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:117731400-117740200	ZNF genes & repeats	GM12878-XiMat	blood
7	chr8:117733000-117739800	Weak transcription	Fetal Heart	heart
8	chr8:117733000-117740800	Weak transcription	NHDF-Ad	bronchial
9	chr8:117733000-117742400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:117733600-117740800	Weak transcription	Aorta	Aorta
11	chr8:117733600-117740800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:117733600-117741000	Weak transcription	HUVEC	blood vessel
13	chr8:117733600-117742400	Weak transcription	Right Ventricle	heart
14	chr8:117733600-117745000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:117733600-117745200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
17	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:117734000-117739800	Weak transcription	Colonic Mucosa	Colon
19	chr8:117734000-117740600	Weak transcription	HMEC	breast
20	chr8:117734000-117742200	Weak transcription	NH-A	brain
21	chr8:117734000-117742400	Weak transcription	Esophagus	oesophagus
22	chr8:117734000-117747800	Weak transcription	Lung	lung
23	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:117734400-117740800	Weak transcription	Ovary	ovary
25	chr8:117734400-117742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:117734400-117742400	Weak transcription	Gastric	stomach
27	chr8:117734400-117742400	Weak transcription	Pancreas	Pancrea
28	chr8:117734400-117742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
31	chr8:117734600-117740400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:117734600-117740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:117734600-117741800	Weak transcription	Brain Germinal Matrix	brain
34	chr8:117734600-117742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:117734600-117742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:117734600-117742400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:117734600-117742400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:117734600-117742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:117734600-117742400	Weak transcription	Left Ventricle	heart
40	chr8:117734600-117742400	Weak transcription	Spleen	Spleen
41	chr8:117734600-117742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:117734600-117743400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:117734600-117746800	Weak transcription	Thymus	Thymus
44	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
47	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:117734800-117740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:117734800-117740800	Weak transcription	NHEK	skin
50	chr8:117734800-117741200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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