Variant report

Variant	rs17008888
Chromosome Location	chr1:220993164-220993165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11118607	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406881	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055117	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72472363	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv1008867	chr1:220986965-220999703	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220966400-220996000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:220973400-221000200	Weak transcription	Placenta	Placenta
3	chr1:220980400-221001400	Weak transcription	Gastric	stomach
4	chr1:220984000-220997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:220984000-220999800	Weak transcription	Colonic Mucosa	Colon
6	chr1:220984200-220993400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:220984200-221001400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:220984600-220999600	Weak transcription	Left Ventricle	heart
9	chr1:220984600-221006600	Weak transcription	Psoas Muscle	Psoas
10	chr1:220987400-220997000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:220987600-221003800	Weak transcription	HepG2	liver
12	chr1:220989800-220997800	Weak transcription	Spleen	Spleen
13	chr1:220989800-221000800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:220990000-221001200	Weak transcription	Hela-S3	cervix
15	chr1:220990200-220998000	Weak transcription	Aorta	Aorta
16	chr1:220990400-220993400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:220991000-220993200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:220991000-220993600	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:220991000-220993800	Enhancers	Fetal Stomach	stomach
20	chr1:220991000-220997400	Weak transcription	Liver	Liver
21	chr1:220991200-220993200	Enhancers	Adipose Nuclei	Adipose
22	chr1:220991200-220993400	Enhancers	Fetal Lung	lung
23	chr1:220991200-220993600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:220991400-220993200	Enhancers	Ovary	ovary
25	chr1:220991400-220993400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:220991400-220993400	Enhancers	NHLF	lung
27	chr1:220991400-220993600	Enhancers	NHDF-Ad	bronchial
28	chr1:220991600-220993200	Enhancers	HSMM	muscle
29	chr1:220991600-220993400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:220991600-220993400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:220991600-220993600	Enhancers	HSMMtube	muscle
32	chr1:220991600-220995600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:220991600-221000800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:220991800-220993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:220992000-220993200	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:220992000-220997600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:220992000-220999200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:220992000-221002600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:220992200-220993600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:220992400-220993400	Enhancers	Osteobl	bone
41	chr1:220992600-220993200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:220992600-220993200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:220992800-221001200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:220993000-220993200	Enhancers	Small Intestine	intestine
45	chr1:220993000-220993600	Enhancers	Colon Smooth Muscle	Colon
46	chr1:220993000-220996800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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