Variant report

Variant	rs2114461
Chromosome Location	chr4:119785381-119785382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1019696	0.82[ASW][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11098453	0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11098459	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11098460	0.94[ASN][1000 genomes]
rs12512594	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12643205	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs13139244	0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1365549	0.94[ASN][1000 genomes]
rs1365550	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1365551	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1962840	0.82[ASN][1000 genomes]
rs2303512	0.82[JPT][hapmap]
rs2389688	0.81[ASN][1000 genomes]
rs34057511	0.81[ASN][1000 genomes]
rs36096663	0.80[ASN][1000 genomes]
rs3775839	0.82[ASW][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3775840	0.81[ASN][1000 genomes]
rs3885192	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4833592	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4833593	0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4834706	0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs4834710	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6811006	0.85[ASN][1000 genomes]
rs6817084	0.85[ASN][1000 genomes]
rs6836897	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7375858	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2114461	SEC24D	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119772400-119788200	Weak transcription	NHDF-Ad	bronchial
2	chr4:119780200-119788400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:119784000-119785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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