Variant report

Variant	rs12897078
Chromosome Location	chr14:85700803-85700804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11626130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879844	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881773	1.00[ASN][1000 genomes]
rs12896378	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896555	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1375574	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17201769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796627	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34003123	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35112032	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35927240	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59671854	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66792363	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67123871	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685724	1.00[ASN][1000 genomes]
rs72687543	1.00[ASN][1000 genomes]
rs72687586	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671968	1.00[ASN][1000 genomes]
rs967282	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3401331	chr14:85332747-85716351	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832846	chr14:85517736-85715650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3381198	chr14:85690248-85709087	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv902168	chr14:85693904-85716792	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85695800-85707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:85699800-85702600	Enhancers	HUVEC	blood vessel
3	chr14:85700200-85701000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:85700200-85701200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:85700200-85701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:85700200-85701200	Enhancers	NH-A	brain
7	chr14:85700200-85701400	Enhancers	Osteobl	bone
8	chr14:85700200-85701600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:85700400-85701200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr14:85700400-85701200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:85700400-85701200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:85700400-85701200	Enhancers	Hela-S3	cervix
13	chr14:85700400-85701200	Enhancers	HSMM	muscle
14	chr14:85700400-85701400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:85700400-85701400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:85700400-85701400	Flanking Active TSS	NHEK	skin
17	chr14:85700600-85701200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:85700600-85701200	Flanking Active TSS	A549	lung
19	chr14:85700600-85701400	Enhancers	NHLF	lung
20	chr14:85700800-85701000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:85700800-85701000	Flanking Active TSS	HMEC	breast
22	chr14:85700800-85701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:85700800-85701200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:85700800-85701400	Enhancers	HUES64 Cell Line	embryonic stem cell

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