Variant report

Variant	rs56785762
Chromosome Location	chr14:39487890-39487891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10134656	0.86[AMR][1000 genomes]
rs10139666	0.82[ASN][1000 genomes]
rs10141079	0.86[AMR][1000 genomes]
rs10141081	0.86[AMR][1000 genomes]
rs10150756	0.86[AMR][1000 genomes]
rs10151124	0.82[ASN][1000 genomes]
rs10151960	0.82[AMR][1000 genomes]
rs10483543	0.82[ASN][1000 genomes]
rs11623907	0.86[AMR][1000 genomes]
rs11623945	0.86[AMR][1000 genomes]
rs11625689	0.86[AMR][1000 genomes]
rs11627264	0.86[AMR][1000 genomes]
rs11628480	0.82[AMR][1000 genomes]
rs11628564	0.86[AMR][1000 genomes]
rs11845793	0.86[AMR][1000 genomes]
rs11848067	0.86[AMR][1000 genomes]
rs12323565	0.86[AMR][1000 genomes]
rs17108596	0.86[AMR][1000 genomes]
rs17108696	0.86[AMR][1000 genomes]
rs2025061	0.86[AMR][1000 genomes]
rs2144528	0.86[AMR][1000 genomes]
rs28414518	0.86[AMR][1000 genomes]
rs28470602	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3896147	0.80[ASN][1000 genomes]
rs55672305	0.86[AMR][1000 genomes]
rs55737943	0.86[AMR][1000 genomes]
rs56064304	0.86[AMR][1000 genomes]
rs56105133	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7144625	0.86[AMR][1000 genomes]
rs7159520	0.86[AMR][1000 genomes]
rs743223	0.82[AMR][1000 genomes]
rs8019396	0.86[AMR][1000 genomes]
rs926970	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs993675	0.86[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:39465600-39498200	Weak transcription	NH-A	brain
4	chr14:39469200-39497400	Weak transcription	HSMM	muscle
5	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:39479000-39493000	Weak transcription	A549	lung
7	chr14:39479600-39498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:39479800-39492800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:39480200-39499000	Weak transcription	NHDF-Ad	bronchial
10	chr14:39481200-39492600	Weak transcription	Fetal Intestine Small	intestine
11	chr14:39482200-39495000	Weak transcription	HUVEC	blood vessel
12	chr14:39482800-39499200	Weak transcription	Right Ventricle	heart
13	chr14:39483800-39492600	Weak transcription	Osteobl	bone
14	chr14:39485200-39498600	Weak transcription	Aorta	Aorta
15	chr14:39486000-39498600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:39486200-39492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39486400-39495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:39486400-39497400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:39486400-39498600	Weak transcription	HSMMtube	muscle
20	chr14:39486600-39498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:39486800-39495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:39486800-39495200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:39486800-39498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:39487000-39498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:39487000-39499400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:39487200-39492600	Weak transcription	HepG2	liver
27	chr14:39487200-39498600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:39487200-39498600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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