Variant report

Variant	rs6992462
Chromosome Location	chr8:59763797-59763798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11998693	0.81[ASN][1000 genomes]
rs12679949	0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3779999	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs57569962	1.00[EUR][1000 genomes]
rs61049278	1.00[EUR][1000 genomes]
rs6471753	1.00[EUR][1000 genomes]
rs6999284	1.00[EUR][1000 genomes]
rs73243052	1.00[EUR][1000 genomes]
rs73243060	1.00[EUR][1000 genomes]
rs7820385	1.00[EUR][1000 genomes]
rs7826293	1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
2	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
3	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
6	chr8:59750800-59771000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:59755600-59770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:59755800-59772200	Weak transcription	Small Intestine	intestine
9	chr8:59758400-59768600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:59759600-59770200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:59760400-59764400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:59760400-59770800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:59760600-59764200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:59760800-59764400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:59761200-59770800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:59761600-59764200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:59761600-59764600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:59761600-59769000	Strong transcription	Dnd41	blood
21	chr8:59761800-59764200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:59761800-59764400	Enhancers	HUVEC	blood vessel
23	chr8:59761800-59764600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:59762000-59770800	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:59762200-59763800	Flanking Active TSS	A549	lung
26	chr8:59762200-59764400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:59762200-59766200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:59762400-59764000	Enhancers	Osteobl	bone
29	chr8:59762400-59764200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:59762400-59764200	Strong transcription	Primary T cells from cord blood	blood
31	chr8:59762400-59764200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:59762400-59764200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr8:59762400-59764200	Enhancers	HSMMtube	muscle
34	chr8:59762400-59764400	Enhancers	NH-A	brain
35	chr8:59762400-59765000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:59762600-59764200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr8:59762600-59764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:59762600-59764400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:59762600-59764400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:59762600-59764400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:59762600-59764400	Strong transcription	Thymus	Thymus
42	chr8:59762800-59763800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:59762800-59764000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:59762800-59764200	Strong transcription	Fetal Lung	lung
45	chr8:59762800-59764400	Strong transcription	Fetal Stomach	stomach
46	chr8:59762800-59764400	Strong transcription	Gastric	stomach
47	chr8:59763000-59764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:59763000-59764200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:59763000-59764400	Enhancers	HMEC	breast
50	chr8:59763000-59765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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