Variant report

Variant	rs11690114
Chromosome Location	chr2:46621087-46621088
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11675328	0.88[ASN][1000 genomes]
rs11686509	0.88[ASN][1000 genomes]
rs11686705	0.85[ASN][1000 genomes]
rs11691694	0.89[ASN][1000 genomes]
rs11693596	0.84[ASN][1000 genomes]
rs11693754	0.88[ASN][1000 genomes]
rs1530622	0.81[ASN][1000 genomes]
rs35193335	0.89[ASN][1000 genomes]
rs4952823	0.80[ASN][1000 genomes]
rs55826825	0.85[ASN][1000 genomes]
rs58481769	0.88[ASN][1000 genomes]
rs62138871	0.88[ASN][1000 genomes]
rs7591548	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46612000-46622400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
3	chr2:46614600-46623000	Weak transcription	Esophagus	oesophagus
4	chr2:46615400-46624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:46615600-46622400	Weak transcription	Spleen	Spleen
6	chr2:46615800-46622200	Weak transcription	A549	lung
7	chr2:46615800-46622200	Weak transcription	NHEK	skin
8	chr2:46616200-46622000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:46616800-46621600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:46617000-46621600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:46617000-46621800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:46617400-46621200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:46617400-46622000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:46618600-46622200	Weak transcription	HMEC	breast
15	chr2:46618600-46622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:46619800-46621600	Enhancers	HepG2	liver
17	chr2:46620000-46621200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:46620000-46621400	Enhancers	NHDF-Ad	bronchial
19	chr2:46620200-46622800	Enhancers	Placenta	Placenta
20	chr2:46620400-46631600	Weak transcription	K562	blood
21	chr2:46620600-46621200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:46620600-46622800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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