Variant report

Variant	rs1318243
Chromosome Location	chr1:76627323-76627324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10873868	0.87[EUR][1000 genomes]
rs11162091	0.85[LWK][hapmap]
rs11162094	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs11162100	0.82[EUR][1000 genomes]
rs11584719	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031035	0.87[EUR][1000 genomes]
rs12080978	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12083141	0.82[EUR][1000 genomes]
rs12085592	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12086586	0.83[EUR][1000 genomes]
rs12089339	0.87[EUR][1000 genomes]
rs12089419	1.00[CEU][hapmap];0.93[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs12089425	0.87[EUR][1000 genomes]
rs12136476	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs12136538	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs12138879	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12138975	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12139114	0.88[EUR][1000 genomes]
rs1684945	0.88[EUR][1000 genomes]
rs2631794	0.80[EUR][1000 genomes]
rs2631795	0.82[EUR][1000 genomes]
rs2706179	0.84[EUR][1000 genomes]
rs2706180	0.84[EUR][1000 genomes]
rs28485639	0.88[EUR][1000 genomes]
rs376878	0.88[EUR][1000 genomes]
rs409936	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs411756	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs417738	0.83[EUR][1000 genomes]
rs417932	0.88[EUR][1000 genomes]
rs432956	0.89[EUR][1000 genomes]
rs434302	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4949686	1.00[CHB][hapmap]
rs592872	0.88[EUR][1000 genomes]
rs638947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7512081	0.87[EUR][1000 genomes]
rs7514776	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7521939	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs7528649	0.88[EUR][1000 genomes]
rs7528680	1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs7528766	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs7532337	0.87[EUR][1000 genomes]
rs7534087	0.87[EUR][1000 genomes]
rs7536455	0.87[EUR][1000 genomes]
rs7540069	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7552671	0.87[EUR][1000 genomes]
rs923244	0.94[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs923245	0.94[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.84[EUR][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	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1318243	USP33	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76619800-76646400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76620600-76627800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:76620800-76627800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:76621000-76627600	Weak transcription	Fetal Lung	lung
5	chr1:76621000-76630600	Weak transcription	Psoas Muscle	Psoas
6	chr1:76621000-76630800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:76626000-76627800	Enhancers	Fetal Intestine Small	intestine
8	chr1:76627000-76627800	Enhancers	Fetal Muscle Leg	muscle

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