Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10483924	1.00[CEU][hapmap]
rs1080130	1.00[CEU][hapmap]
rs12587614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12587752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17109288	1.00[CEU][hapmap]
rs17109299	1.00[CEU][hapmap]
rs17109308	1.00[CEU][hapmap]
rs17109317	1.00[CEU][hapmap]
rs17109338	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17109362	1.00[CEU][hapmap]
rs17109409	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17109418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17109448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17109473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17109577	0.98[ASN][1000 genomes]
rs17109652	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17109654	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17109658	0.83[AMR][1000 genomes]
rs17109704	0.83[AMR][1000 genomes]
rs2270446	0.83[AMR][1000 genomes]
rs2371057	1.00[EUR][1000 genomes]
rs4448862	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs59693725	0.89[ASN][1000 genomes]
rs6574509	1.00[CEU][hapmap]
rs7145991	1.00[CEU][hapmap]
rs7153889	1.00[CEU][hapmap]
rs7158959	1.00[CEU][hapmap]
rs8015537	1.00[CEU][hapmap]
rs920122	1.00[EUR][1000 genomes]
rs920123	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9806079	0.89[EUR][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80047600-80068800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:80062200-80065800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:80062400-80065200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:80062400-80065400	Enhancers	NHDF-Ad	bronchial
6	chr14:80062400-80066000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:80062600-80065400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:80063000-80065200	Enhancers	NHLF	lung
9	chr14:80063200-80065600	Enhancers	NH-A	brain
10	chr14:80063400-80069600	Weak transcription	Aorta	Aorta
11	chr14:80063800-80065200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:80063800-80065400	Enhancers	Adipose Nuclei	Adipose
13	chr14:80064400-80065200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:80064400-80065800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:80064600-80065200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:80064800-80065400	Enhancers	HSMMtube	muscle
17	chr14:80064800-80074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:80065000-80065200	Flanking Active TSS	Osteobl	bone

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