Variant report

Variant	rs4975186
Chromosome Location	chr4:129462871-129462872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1603886	0.87[ASN][1000 genomes]
rs1603887	0.87[ASN][1000 genomes]
rs4975185	0.85[ASN][1000 genomes]
rs6534691	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6849290	0.82[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129456600-129465000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129456600-129467000	Weak transcription	Pancreas	Pancrea
3	chr4:129458200-129464800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:129458400-129464600	Weak transcription	Right Atrium	heart
5	chr4:129459400-129464000	Weak transcription	Fetal Heart	heart
6	chr4:129459600-129463400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:129460200-129463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:129460400-129474200	Weak transcription	Esophagus	oesophagus
9	chr4:129460600-129463000	Weak transcription	Placenta	Placenta

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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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