Variant report

Variant	rs170247
Chromosome Location	chr14:80064635-80064636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs172710	0.91[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs2008386	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs2194617	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs221415	0.88[ASW][hapmap];0.87[YRI][hapmap]
rs221426	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs2543575	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2552415	0.91[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs918938	0.91[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs975728	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]

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:19 , 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	chr14:80063800-80064800	Weak transcription	HSMMtube	muscle
12	chr14:80063800-80065200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:80063800-80065400	Enhancers	Adipose Nuclei	Adipose
14	chr14:80064400-80065200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:80064400-80065800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:80064600-80064800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:80064600-80064800	Flanking Active TSS	Osteobl	bone
18	chr14:80064600-80065000	Enhancers	HSMM	muscle
19	chr14:80064600-80065200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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