Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10467836	0.82[MEX][hapmap]
rs170247	0.94[ASW][hapmap];0.82[CHD][hapmap];0.87[LWK][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs170248	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs170255	0.81[ASN][1000 genomes]
rs172712	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs17836224	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs17836226	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs188780	0.83[ASN][1000 genomes]
rs221415	0.94[ASW][hapmap];0.94[CEU][hapmap];0.89[LWK][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.90[EUR][1000 genomes]
rs221423	0.91[JPT][hapmap]
rs221426	0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221427	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs221429	0.82[ASN][1000 genomes]
rs221435	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2543570	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2543576	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2543577	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2543579	0.80[ASN][1000 genomes]
rs2543580	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2543581	0.80[ASN][1000 genomes]
rs2543582	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2552415	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs2552416	0.80[ASN][1000 genomes]
rs2552419	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs8013736	0.91[JPT][hapmap];0.80[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs975728	C14orf174	cis	cerebellum	SCAN

Chromatin state (count:20 , 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	chr14:80061600-80064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:80062200-80064600	Enhancers	Osteobl	bone
5	chr14:80062200-80065800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:80062400-80065200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:80062400-80065400	Enhancers	NHDF-Ad	bronchial
8	chr14:80062400-80066000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:80062600-80065400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:80063000-80065200	Enhancers	NHLF	lung
11	chr14:80063200-80065600	Enhancers	NH-A	brain
12	chr14:80063400-80064600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:80063400-80069600	Weak transcription	Aorta	Aorta
14	chr14:80063600-80064600	Weak transcription	HSMM	muscle
15	chr14:80063800-80064800	Weak transcription	HSMMtube	muscle
16	chr14:80063800-80065200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:80063800-80065400	Enhancers	Adipose Nuclei	Adipose
18	chr14:80064200-80064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:80064400-80065200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:80064400-80065800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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