Variant report

Variant	rs17278890
Chromosome Location	chr2:56150349-56150350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72807770	1.00[AFR][1000 genomes]
rs72811741	0.82[AMR][1000 genomes]

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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3430118	chr2:56147911-56152306	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
2	chr2:56147400-56151400	Active TSS	Aorta	Aorta
3	chr2:56148600-56151400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr2:56148600-56151600	Active TSS	Right Atrium	heart
5	chr2:56148800-56151400	Active TSS	Brain Anterior Caudate	brain
6	chr2:56149000-56151200	Active TSS	Colon Smooth Muscle	Colon
7	chr2:56149000-56151400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56149000-56151400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:56149000-56151400	Active TSS	Ovary	ovary
10	chr2:56149000-56151400	Active TSS	HSMMtube	muscle
11	chr2:56149200-56150400	Active TSS	Brain Hippocampus Middle	brain
12	chr2:56149200-56151000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56149200-56151200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:56149200-56151200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:56149200-56151200	Bivalent/Poised TSS	NHDF-Ad	bronchial
16	chr2:56149200-56151400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr2:56149200-56151400	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:56149200-56151600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:56149400-56150400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:56149400-56150600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:56149400-56151000	Bivalent/Poised TSS	Left Ventricle	heart
22	chr2:56149400-56151000	Active TSS	Lung	lung
23	chr2:56149400-56151200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:56149400-56151200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:56149400-56151400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:56149400-56151400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:56149400-56151400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:56149400-56151400	Active TSS	Brain Substantia Nigra	brain
29	chr2:56149400-56151400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr2:56149400-56151400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr2:56149400-56151400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
32	chr2:56149400-56151400	Active TSS	HSMM	muscle
33	chr2:56149400-56151600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr2:56149600-56150600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr2:56149600-56150800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:56149600-56150800	Flanking Active TSS	Placenta	Placenta
37	chr2:56149600-56151000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr2:56149600-56151200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:56149600-56151200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:56149600-56151200	Bivalent/Poised TSS	Thymus	Thymus
41	chr2:56149600-56151200	Active TSS	Hela-S3	cervix
42	chr2:56149600-56151200	Active TSS	HUVEC	blood vessel
43	chr2:56149600-56151200	Active TSS	NHLF	lung
44	chr2:56149600-56151400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr2:56149600-56151400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:56149600-56151400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:56149600-56151400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:56149600-56151400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:56149600-56151400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:56149600-56151400	Bivalent/Poised TSS	Brain Angular Gyrus	brain

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