Variant report

Variant	rs2642425
Chromosome Location	chr1:220998624-220998625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11118614	1.00[EUR][1000 genomes]
rs12095163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220973400-221000200	Weak transcription	Placenta	Placenta
2	chr1:220980400-221001400	Weak transcription	Gastric	stomach
3	chr1:220984000-220999800	Weak transcription	Colonic Mucosa	Colon
4	chr1:220984200-221001400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:220984600-220999600	Weak transcription	Left Ventricle	heart
6	chr1:220984600-221006600	Weak transcription	Psoas Muscle	Psoas
7	chr1:220987600-221003800	Weak transcription	HepG2	liver
8	chr1:220989800-221000800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:220990000-221001200	Weak transcription	Hela-S3	cervix
10	chr1:220991600-221000800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:220992000-220999200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:220992000-221002600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:220992800-221001200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:220993200-220999200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:220993200-221000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:220993200-221001000	Weak transcription	Ovary	ovary
17	chr1:220993400-221001000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:220995000-221001000	Weak transcription	Right Atrium	heart
19	chr1:220995600-221005400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:220996000-221001400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:220997400-221003400	Enhancers	Liver	Liver
22	chr1:220997800-220999200	Weak transcription	Fetal Heart	heart
23	chr1:220998000-220999200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:220998000-220999200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:220998000-220999200	Weak transcription	Osteobl	bone
26	chr1:220998000-221000800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:220998000-221001600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:220998200-220999200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:220998200-220999600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:220998200-220999800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:220998200-221000200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:220998200-221000800	Weak transcription	Spleen	Spleen
33	chr1:220998200-221001600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:220998200-221004200	Weak transcription	Aorta	Aorta

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