Variant report

Variant	rs4731344
Chromosome Location	chr7:126866764-126866765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1592362	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1592363	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2106149	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2237806	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2237807	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2237808	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4532535	0.80[JPT][hapmap];0.81[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	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1819919	chr7:126850298-126888714	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4731344	ZNF800	cis	parietal	SCAN
rs4731344	ZNF800	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126864400-126866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:126866000-126867200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:126866600-126866800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:126866600-126867000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:126866600-126867200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:126866600-126867400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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