Variant report

Variant	rs2623145
Chromosome Location	chr14:85217580-85217581
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1481417	1.00[ASN][1000 genomes]
rs2623122	1.00[ASN][1000 genomes]
rs2623123	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765916	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819809	1.00[ASN][1000 genomes]
rs2819810	1.00[ASN][1000 genomes]
rs2819817	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819820	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819825	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922650	1.00[ASN][1000 genomes]
rs2922655	1.00[ASN][1000 genomes]
rs2998292	1.00[ASN][1000 genomes]
rs2998324	1.00[ASN][1000 genomes]
rs3008502	1.00[ASN][1000 genomes]
rs3008503	1.00[ASN][1000 genomes]
rs72692351	1.00[ASN][1000 genomes]
rs72694502	1.00[ASN][1000 genomes]
rs8011868	1.00[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	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902163	chr14:85165200-85390134	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85215600-85217600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:85215600-85217600	Enhancers	HUVEC	blood vessel
3	chr14:85216400-85218000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:85216600-85217800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:85216800-85217800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:85216800-85217800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:85216800-85217800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:85216800-85217800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:85217000-85217600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:85217200-85217600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:85217200-85217600	Active TSS	Ovary	ovary
12	chr14:85217200-85217600	Active TSS	NH-A	brain
13	chr14:85217200-85217800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:85217200-85217800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:85217200-85217800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:85217200-85218000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:85217200-85218200	Weak transcription	Fetal Kidney	kidney
18	chr14:85217200-85218200	Weak transcription	Fetal Lung	lung
19	chr14:85217400-85217600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:85217400-85217600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:85217400-85217600	Flanking Active TSS	NHEK	skin
22	chr14:85217400-85217800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:85217400-85217800	Active TSS	Pancreas	Pancrea

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