Variant report

Variant	rs12147311
Chromosome Location	chr14:69470271-69470272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17106677	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242100	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[ASN][1000 genomes]
rs4902664	1.00[CHB][hapmap]
rs7151159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718222	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs761896	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9888604	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv515850	chr14:69470271-69470433	Weak transcription Enhancers	Chromatin interactive region	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	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69456000-69471200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69462800-69470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:69465000-69471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:69465000-69471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:69469000-69471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:69469000-69472000	Weak transcription	Placenta	Placenta
8	chr14:69469200-69471600	Weak transcription	A549	lung
9	chr14:69469600-69471200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:69469800-69471000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:69469800-69473000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:69470000-69470800	Weak transcription	H1 BMP4 Derived Trophoblast 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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