Variant report

Variant	rs2268475
Chromosome Location	chr14:81572310-81572311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11159491	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs12885526	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs1861272	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1990595	0.80[ASN][1000 genomes]
rs1990596	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2024425	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2024426	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2080305	0.96[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2080306	0.91[CHB][hapmap]
rs2284735	0.85[AMR][1000 genomes]
rs2371468	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs3783941	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs3783942	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs7141675	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147527	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7150670	0.80[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7151769	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs7160420	0.86[CHB][hapmap]
rs8010611	1.00[YRI][hapmap]

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	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1038949	chr14:81543590-81579896	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81538200-81593000	Weak transcription	Psoas Muscle	Psoas
2	chr14:81549000-81572400	Weak transcription	Left Ventricle	heart
3	chr14:81557000-81572800	Strong transcription	Dnd41	blood
4	chr14:81566400-81581200	Weak transcription	Fetal Thymus	thymus
5	chr14:81568600-81574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:81569800-81572600	Strong transcription	Liver	Liver
7	chr14:81570000-81572600	Strong transcription	Thymus	Thymus
8	chr14:81570200-81581200	Weak transcription	Pancreas	Pancrea
9	chr14:81571000-81573200	Weak transcription	Right Ventricle	heart
10	chr14:81571600-81572600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:81571600-81572800	Enhancers	Adipose Nuclei	Adipose
12	chr14:81571800-81572400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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

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