Variant report

Variant	rs983401
Chromosome Location	chr3:134661430-134661431
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13316480	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525015	1.00[CHB][hapmap]
rs16842308	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842460	1.00[CHB][hapmap]
rs28718846	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58193970	1.00[ASN][1000 genomes]
rs58195225	1.00[ASN][1000 genomes]
rs61413999	1.00[ASN][1000 genomes]
rs62270312	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62270314	1.00[ASN][1000 genomes]
rs62270315	1.00[ASN][1000 genomes]
rs62270317	1.00[ASN][1000 genomes]
rs62270318	1.00[ASN][1000 genomes]
rs62270321	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270343	0.90[EUR][1000 genomes]
rs62273061	1.00[ASN][1000 genomes]
rs6764013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214171	1.00[ASN][1000 genomes]
rs73214194	1.00[ASN][1000 genomes]
rs73218226	1.00[ASN][1000 genomes]
rs7614716	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7625747	1.00[CHB][hapmap]
rs7635428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs7636773	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848835	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849294	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs983401	C3orf36	cis	cerebellum	SCAN
rs983401	RAB6B	cis	parietal	SCAN
rs983401	NMNAT3	cis	cerebellum	SCAN
rs983401	KRAS	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134656600-134673000	Weak transcription	GM12878-XiMat	blood
2	chr3:134658200-134669000	Weak transcription	Fetal Brain Female	brain
3	chr3:134660400-134661600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr3:134660600-134662200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:134660800-134661800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:134661000-134661600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:134661200-134669200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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