Variant report

Variant	rs1523931
Chromosome Location	chr6:69470944-69470945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69365676..69367185-chr6:69468394..69470988,2	K562	blood:
2	chr6:69347823..69348812-chr6:69470900..69472284,4	K562	blood:
3	chr6:69368749..69371635-chr6:69469945..69471663,2	K562	blood:
4	chr6:69443233..69444846-chr6:69468097..69471005,2	K562	blood:
5	chr6:69469056..69471849-chr6:69472009..69475947,4	K562	blood:
6	chr6:69367803..69371635-chr6:69469179..69471663,3	K562	blood:
7	chr6:69449408..69453188-chr6:69468664..69472430,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10806605	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs10945134	0.81[MEX][hapmap]
rs12194992	0.94[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12197039	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1523932	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs2024561	0.94[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2254150	0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2256337	0.82[CHB][hapmap]
rs2585593	0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2585594	0.93[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2585618	0.82[CHB][hapmap]
rs2746126	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2746129	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2802699	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs2802705	0.82[CHB][hapmap]
rs28395490	0.87[ASN][1000 genomes]
rs478070	0.94[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs530888	0.80[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs639338	0.80[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6455297	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908159	0.80[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6930275	0.87[ASN][1000 genomes]
rs7753280	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9342730	0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.85[ASN][1000 genomes]
rs9342731	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs9346233	0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.84[ASN][1000 genomes]
rs9346234	0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9346236	0.86[ASN][1000 genomes]
rs9346237	0.81[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs9346238	0.96[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9351734	0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs9351735	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9351736	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs9354797	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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2655218	chr6:69470728-69472243	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1523931	FAM135A	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69467200-69485000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:69468400-69480000	Weak transcription	Fetal Lung	lung
3	chr6:69470200-69471000	Enhancers	Brain Substantia Nigra	brain
4	chr6:69470400-69471200	Active TSS	Brain Hippocampus Middle	brain
5	chr6:69470600-69471000	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr6:69470600-69471400	Flanking Active TSS	K562	blood
7	chr6:69470800-69471000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:69470800-69471200	Active TSS	Brain Anterior Caudate	brain
9	chr6:69470800-69471200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:69470800-69471200	Enhancers	Fetal Brain Male	brain
11	chr6:69470800-69471400	Flanking Active TSS	Brain Angular Gyrus	brain

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