Variant report

Variant	rs562122493
Chromosome Location	chr8:117740907-117740908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117726723..117730275-chr8:117737114..117740946,5	K562	blood:
2	chr8:117739444..117740964-chr8:117750827..117752359,2	K562	blood:
3	chr6:134438581..134440830-chr8:117739985..117742395,2	MCF-7	breast:
4	chr8:117735115..117737954-chr8:117739728..117741269,2	MCF-7	breast:
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

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv981975	chr8:117739483-117741262	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733000-117742400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:117733600-117741000	Weak transcription	HUVEC	blood vessel
3	chr8:117733600-117742400	Weak transcription	Right Ventricle	heart
4	chr8:117733600-117745000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:117733600-117745200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
7	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
8	chr8:117734000-117742200	Weak transcription	NH-A	brain
9	chr8:117734000-117742400	Weak transcription	Esophagus	oesophagus
10	chr8:117734000-117747800	Weak transcription	Lung	lung
11	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:117734400-117742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:117734400-117742400	Weak transcription	Gastric	stomach
14	chr8:117734400-117742400	Weak transcription	Pancreas	Pancrea
15	chr8:117734400-117742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
18	chr8:117734600-117741800	Weak transcription	Brain Germinal Matrix	brain
19	chr8:117734600-117742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:117734600-117742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:117734600-117742400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:117734600-117742400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:117734600-117742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:117734600-117742400	Weak transcription	Left Ventricle	heart
25	chr8:117734600-117742400	Weak transcription	Spleen	Spleen
26	chr8:117734600-117742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:117734600-117743400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:117734600-117746800	Weak transcription	Thymus	Thymus
29	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
32	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:117734800-117741200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:117734800-117747800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:117734800-117748600	Weak transcription	Fetal Intestine Large	intestine
36	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:117735000-117742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:117735000-117743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:117736000-117744000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:117736600-117745200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:117736600-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:117736800-117742000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:117737000-117742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:117737400-117741600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:117737600-117741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:117737600-117742200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:117737600-117745000	Weak transcription	HSMM	muscle

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