Variant report

Variant	rs7793481
Chromosome Location	chr7:21816118-21816119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10241767	0.92[CEU][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11761422	0.81[CEU][hapmap]
rs11763827	0.85[CEU][hapmap]
rs11764949	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17145412	0.85[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs17145452	0.80[ASN][1000 genomes]
rs17357735	0.81[CEU][hapmap]
rs17358098	0.81[CEU][hapmap];0.90[MEX][hapmap]
rs1859102	0.85[CEU][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap]
rs2074328	0.85[ASN][1000 genomes]
rs2074331	0.84[CHB][hapmap];0.88[ASN][1000 genomes]
rs2189020	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2189021	0.85[CEU][hapmap];0.90[MEX][hapmap]
rs2269827	0.89[ASN][1000 genomes]
rs2286270	0.85[MEX][hapmap];0.84[TSI][hapmap]
rs36121046	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4141348	0.85[CHB][hapmap];0.85[CHD][hapmap];0.84[ASN][1000 genomes]
rs4722055	0.80[CEU][hapmap];0.85[JPT][hapmap]
rs6965106	0.85[CEU][hapmap]

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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv470177	chr7:21801125-21817048	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv5656	chr7:21810397-21816672	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7793481	TWISTNB	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21812600-21817400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:21813200-21818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:21815200-21816200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:21815400-21816200	Enhancers	iPS-15b 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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