Variant report

Variant	rs11097638
Chromosome Location	chr4:99781443-99781444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99779490..99782136-chr4:99849250..99851783,2	K562	blood:
2	chr4:99770053..99772360-chr4:99779402..99782266,2	MCF-7	breast:
3	chr4:99780530..99783246-chr4:99785564..99787970,2	K562	blood:
4	chr4:99780141..99782136-chr4:99849487..99851783,2	K562	blood:
5	chr4:99780979..99783904-chr4:99786439..99788343,2	K562	blood:
6	chr4:99670336..99672398-chr4:99779460..99782388,2	K562	blood:

Variant related genes	Relation type
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10010685	0.88[ASN][1000 genomes]
rs10020784	0.90[ASN][1000 genomes]
rs10025191	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10032035	0.89[ASN][1000 genomes]
rs12108521	0.89[ASN][1000 genomes]
rs13135078	0.91[ASN][1000 genomes]
rs2120377	0.89[ASN][1000 genomes]
rs2165945	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28705981	0.89[ASN][1000 genomes]
rs4348102	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4632668	0.89[ASN][1000 genomes]
rs4699368	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4699679	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4699684	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4699686	0.83[ASN][1000 genomes]
rs4699687	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5025596	0.89[ASN][1000 genomes]
rs6532770	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6532771	0.89[ASN][1000 genomes]
rs6813043	0.89[ASN][1000 genomes]
rs6854056	0.82[AFR][1000 genomes]
rs7657231	0.87[ASN][1000 genomes]
rs7673626	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7698057	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7698463	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9684353	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9991845	0.97[ASN][1000 genomes]
rs9997942	0.89[ASN][1000 genomes]
rs9998221	0.90[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11097638	ADH5	cis	cerebellum	SCAN
rs11097638	P2RX5	trans	lymphoblastoid	seeQTL
rs11097638	ADH5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99780600-99781800	Enhancers	K562	blood
2	chr4:99781400-99782400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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