Variant report

Variant	rs412791
Chromosome Location	chr7:126494124-126494125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126085913-126088095..7:126492401-126497300	GM12878	blood:
2	chr7:126492682..126494185-chr7:126494985..126497035,2	K562	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1002744	0.83[CHB][hapmap]
rs10258445	0.81[GIH][hapmap];0.95[TSI][hapmap]
rs10808227	0.80[MEX][hapmap];0.81[MKK][hapmap];0.81[YRI][hapmap]
rs10954134	0.81[YRI][hapmap]
rs10954138	0.91[GIH][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap]
rs11971186	0.89[GIH][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap]
rs1204516	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs1204520	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1204522	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1204524	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1204526	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1204530	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1204532	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12670445	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1361987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1419490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2157752	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237768	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2283075	0.91[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs2299521	0.88[ASN][1000 genomes]
rs3808145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808150	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs3919444	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761365	chr7:126452758-126506602	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv608376	chr7:126457779-126571077	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv608377	chr7:126478190-126512514	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs412791	ZNF800	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126493200-126495000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:126493800-126494200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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