Variant report

Variant	rs4735550
Chromosome Location	chr8:99314335-99314336
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	chr8:99312344..99314652-chr8:99343314..99345193,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11787135	0.97[ASN][1000 genomes]
rs11988510	0.97[ASN][1000 genomes]
rs11990039	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11993234	1.00[YRI][hapmap]
rs12545495	0.87[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12545646	0.85[EUR][1000 genomes]
rs12680907	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16896860	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896886	0.87[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17288751	0.97[ASN][1000 genomes]
rs17360790	0.97[ASN][1000 genomes]
rs2290293	0.81[CEU][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap]
rs3923611	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4388427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552871	0.87[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4735549	0.97[ASN][1000 genomes]
rs4735551	0.97[ASN][1000 genomes]
rs4735552	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735555	0.87[CEU][hapmap];0.93[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7812348	0.93[ASN][1000 genomes]
rs7813519	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv12554	chr8:99314189-99315584	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4735550	UBR5	cis	cerebellum	SCAN
rs4735550	MTERFD1	cis	parietal	SCAN
rs4735550	UQCRB	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99306800-99317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:99306800-99317200	Weak transcription	Esophagus	oesophagus
3	chr8:99309800-99315000	Weak transcription	Right Atrium	heart
4	chr8:99310000-99316800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
6	chr8:99310400-99315200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:99310400-99317200	Weak transcription	Osteobl	bone
8	chr8:99310800-99317200	Weak transcription	HepG2	liver
9	chr8:99311400-99316000	Enhancers	Fetal Intestine Small	intestine
10	chr8:99311800-99316000	Enhancers	Fetal Intestine Large	intestine
11	chr8:99312400-99316200	Enhancers	K562	blood
12	chr8:99313000-99314800	Weak transcription	Ovary	ovary
13	chr8:99313000-99318200	Weak transcription	Stomach Mucosa	stomach
14	chr8:99313400-99314400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:99313800-99317000	Weak transcription	GM12878-XiMat	blood
16	chr8:99313800-99318000	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links