Variant report

Variant	rs17811450
Chromosome Location	chr8:117741913-117741914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134438581..134440830-chr8:117739985..117742395,2	MCF-7	breast:
2	chr8:117741895..117744803-chr8:117764853..117766862,4	K562	blood:
3	chr8:117741427..117743195-chr8:117775678..117778082,2	MCF-7	breast:
4	chr8:117735311..117740045-chr8:117740226..117743682,7	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10808484	0.82[CHB][hapmap]
rs10955788	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996147	0.80[AFR][1000 genomes]
rs67991519	0.85[AFR][1000 genomes]
rs7003034	0.87[AFR][1000 genomes]
rs7822206	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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:113 , 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	chr8:117733600-117742400	Weak transcription	Right Ventricle	heart
3	chr8:117733600-117745000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:117733600-117745200	Weak transcription	Brain Anterior Caudate	brain
5	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
6	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
7	chr8:117734000-117742200	Weak transcription	NH-A	brain
8	chr8:117734000-117742400	Weak transcription	Esophagus	oesophagus
9	chr8:117734000-117747800	Weak transcription	Lung	lung
10	chr8:117734200-117752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:117734400-117742400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:117734400-117742400	Weak transcription	Gastric	stomach
13	chr8:117734400-117742400	Weak transcription	Pancreas	Pancrea
14	chr8:117734400-117742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
17	chr8:117734600-117742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:117734600-117742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:117734600-117742400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:117734600-117742400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:117734600-117742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:117734600-117742400	Weak transcription	Left Ventricle	heart
23	chr8:117734600-117742400	Weak transcription	Spleen	Spleen
24	chr8:117734600-117742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:117734600-117743400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:117734600-117746800	Weak transcription	Thymus	Thymus
27	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:117734800-117747800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:117734800-117748600	Weak transcription	Fetal Intestine Large	intestine
33	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:117735000-117742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:117735000-117743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:117736000-117744000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:117736600-117745200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:117736600-117751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:117736800-117742000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:117737000-117742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:117737600-117742200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:117737600-117745000	Weak transcription	HSMM	muscle
46	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
49	chr8:117738400-117742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:117738400-117742400	Weak transcription	Primary B cells from cord blood	blood

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