Variant report

Variant	rs34483988
Chromosome Location	chr2:187559773-187559774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11678190	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11683898	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11685758	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151442	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12615659	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12998294	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13001028	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13006483	0.86[EUR][1000 genomes]
rs13016261	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13026081	0.80[EUR][1000 genomes]
rs13027560	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13028817	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13030356	0.87[ASN][1000 genomes]
rs13033579	0.90[EUR][1000 genomes]
rs1448424	0.85[EUR][1000 genomes]
rs17334303	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17334422	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17406339	0.96[ASN][1000 genomes]
rs17750683	0.80[EUR][1000 genomes]
rs1839121	0.84[EUR][1000 genomes]
rs1839123	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1839124	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2084448	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34521209	0.84[ASN][1000 genomes]
rs34980163	0.84[EUR][1000 genomes]
rs35055112	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35251833	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35986780	0.90[EUR][1000 genomes]
rs36117902	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3816386	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58644770	0.87[ASN][1000 genomes]
rs6717512	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6748509	0.85[EUR][1000 genomes]
rs7419327	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7575516	0.85[EUR][1000 genomes]
rs7589470	0.82[ASN][1000 genomes]
rs9333289	0.81[EUR][1000 genomes]
rs9333290	0.85[EUR][1000 genomes]
rs9789682	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs998972	0.84[AMR][1000 genomes];0.87[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr2:187558000-187559800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:187558000-187560200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:187558000-187560400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:187558000-187560400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:187558000-187560400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:187558000-187560400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:187558000-187560600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:187558000-187563000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:187558200-187559800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr2:187558200-187559800	Active TSS	Primary T cells from cord blood	blood
11	chr2:187558200-187559800	Active TSS	Fetal Lung	lung
12	chr2:187558200-187560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:187558200-187560000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:187558200-187560000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:187558200-187560000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:187558200-187560000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:187558200-187560000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:187558200-187560200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:187558200-187560200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:187558200-187560200	Active TSS	Brain Cingulate Gyrus	brain
21	chr2:187558200-187560200	Active TSS	Colon Smooth Muscle	Colon
22	chr2:187558200-187560200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr2:187558200-187560200	Active TSS	Fetal Stomach	stomach
24	chr2:187558200-187560200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:187558200-187560200	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:187558200-187560400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr2:187558200-187560400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:187558200-187560400	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:187558200-187560600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:187558200-187560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:187558200-187560600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:187558200-187560600	Active TSS	Brain Substantia Nigra	brain
33	chr2:187558200-187560600	Active TSS	Fetal Kidney	kidney
34	chr2:187558200-187560600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:187558200-187560800	Active TSS	Brain Hippocampus Middle	brain
36	chr2:187558200-187561200	Active TSS	Brain Angular Gyrus	brain
37	chr2:187558200-187561200	Active TSS	Brain Anterior Caudate	brain
38	chr2:187558400-187559800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:187558400-187559800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:187558400-187559800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:187558400-187560000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:187558400-187560200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:187558400-187560200	Active TSS	Right Ventricle	heart
44	chr2:187558400-187560400	Enhancers	Fetal Heart	heart
45	chr2:187558400-187560400	Active TSS	Ovary	ovary
46	chr2:187558400-187560400	Active TSS	Psoas Muscle	Psoas
47	chr2:187558400-187560400	Active TSS	NHDF-Ad	bronchial
48	chr2:187558400-187560600	Active TSS	NHLF	lung
49	chr2:187558600-187559800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:187558600-187559800	Active TSS	Placenta	Placenta

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