Variant report

Variant	rs967943
Chromosome Location	chr8:125753604-125753605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10087913	0.95[ASN][1000 genomes]
rs12679774	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1430849	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2891101	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870921	0.85[ASN][1000 genomes]
rs4870925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824749	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7844808	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs891539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs891542	0.87[ASN][1000 genomes]
rs891543	0.85[ASN][1000 genomes]
rs891544	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs967943	KIAA0196	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125752400-125753800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:125752400-125753800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:125752400-125754000	Weak transcription	HepG2	liver
4	chr8:125752800-125756200	Enhancers	Fetal Intestine Small	intestine
5	chr8:125753000-125754200	Enhancers	Fetal Stomach	stomach
6	chr8:125753000-125755600	Enhancers	Stomach Mucosa	stomach
7	chr8:125753200-125755200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125753400-125753800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:125753400-125753800	Enhancers	K562	blood
10	chr8:125753400-125754600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:125753600-125754600	Weak transcription	Liver	Liver

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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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