Variant report

Variant	rs6690192
Chromosome Location	chr1:166852434-166852435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166807920..166809930-chr1:166850623..166853508,2	K562	blood:
2	chr1:166849563..166852830-chr1:166854129..166856433,3	K562	blood:
3	chr1:166852398..166855060-chr1:166856070..166859202,3	MCF-7	breast:
4	chr1:166851966..166853993-chr1:166858092..166859598,2	K562	blood:
5	chr1:166844292..166848543-chr1:166849353..166853640,5	K562	blood:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1053407	0.85[EUR][1000 genomes]
rs10800269	0.90[GIH][hapmap]
rs10800271	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10800273	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10800275	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918586	0.87[GIH][hapmap]
rs10918587	0.80[ASN][1000 genomes]
rs11582566	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12029327	0.80[ASN][1000 genomes]
rs12029367	0.92[GIH][hapmap];0.83[MEX][hapmap];0.80[ASN][1000 genomes]
rs12032642	0.80[ASN][1000 genomes]
rs12039764	0.80[ASN][1000 genomes]
rs12122547	0.80[ASN][1000 genomes]
rs1476348	0.80[ASN][1000 genomes]
rs1476349	0.80[ASN][1000 genomes]
rs1476350	0.92[GIH][hapmap];0.83[MEX][hapmap];0.80[ASN][1000 genomes]
rs17331024	0.80[ASN][1000 genomes]
rs2013526	0.88[CEU][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs2014854	0.88[CEU][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs2072741	0.89[TSI][hapmap]
rs2075947	0.80[ASN][1000 genomes]
rs2075981	0.87[TSI][hapmap]
rs2075982	0.89[TSI][hapmap]
rs2272793	0.92[GIH][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs2312238	0.88[CEU][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs2837	0.93[EUR][1000 genomes]
rs35622400	0.82[ASN][1000 genomes]
rs3753910	0.80[ASN][1000 genomes]
rs4657614	0.84[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs61408535	0.82[ASN][1000 genomes]
rs6427038	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6427046	0.86[EUR][1000 genomes]
rs6675033	0.90[GIH][hapmap]
rs6675750	0.90[GIH][hapmap]
rs6677387	0.82[ASN][1000 genomes]
rs6688277	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6691431	0.92[GIH][hapmap]
rs6718	0.90[GIH][hapmap]
rs7531189	0.92[GIH][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7532247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7548191	0.90[GIH][hapmap]
rs7552562	0.88[CEU][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs760537	0.80[ASN][1000 genomes]
rs926266	0.89[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6690192	ANKRD36BP1	cis	parietal	SCAN
rs6690192	DUTP6	cis	Artery Aorta	GTEx
rs6690192	MAEL	cis	multi-tissue	Pritchard
rs6690192	DUSP12	cis	cerebellum	SCAN
rs6690192	TBX19	cis	cerebellum	SCAN
rs6690192	MAEL	cis	lymphoblastoid	seeQTL
rs6690192	GPR161	cis	cerebellum	SCAN
rs6690192	MAEL	cis	Esophagus Muscularis	GTEx
rs6690192	UHMK1	cis	cerebellum	SCAN
rs6690192	GPA33	cis	multi-tissue	Pritchard
rs6690192	MAEL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166846200-166853200	Weak transcription	Right Atrium	heart

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