Variant report

Variant	rs36100635
Chromosome Location	chr2:86934571-86934572
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	chr2:86933727..86935990-chr2:86943530..86946218,2	MCF-7	breast:
2	chr2:86850404..86852440-chr2:86934384..86936918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1005834	0.80[JPT][hapmap];0.86[MEX][hapmap]
rs10186663	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs10201422	0.90[CEU][hapmap]
rs1049457	0.90[CEU][hapmap]
rs1049458	0.90[CEU][hapmap]
rs1193	0.90[CEU][hapmap]
rs12477737	0.91[ASN][1000 genomes]
rs12613610	0.90[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12623395	0.80[JPT][hapmap]
rs12988718	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850138	0.90[CEU][hapmap]
rs1878109	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs2063848	0.95[CEU][hapmap];0.81[GIH][hapmap];0.89[TSI][hapmap]
rs2138396	0.95[CEU][hapmap]
rs2138397	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2367378	0.90[CEU][hapmap]
rs2887012	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs308920	0.84[ASN][1000 genomes]
rs308921	0.87[ASN][1000 genomes]
rs4240205	0.82[MEX][hapmap]
rs4832047	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4832048	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832306	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4832311	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs6711700	0.89[ASN][1000 genomes]
rs6726451	0.90[CEU][hapmap]
rs6731890	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs6743139	0.82[MEX][hapmap]
rs7558827	0.90[CHB][hapmap]
rs9309636	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs9309637	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs9309638	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs938486	0.85[CEU][hapmap]

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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv961802	chr2:86933414-86958321	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36100635	SFTPB	cis	cerebellum	SCAN
rs36100635	CD8A	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86929400-86935800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:86933600-86941600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:86934200-86934600	Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links