Variant report

Variant	rs1459803
Chromosome Location	chr4:63075414-63075415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10003627	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10004423	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10008785	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10009880	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10010463	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10012480	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10015753	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10015844	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10015846	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10021905	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10024048	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10026975	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10027076	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10027411	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10027512	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10033483	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10471114	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs10866129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11131358	0.83[ASN][1000 genomes]
rs11725609	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11726657	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11727529	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11730751	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11737405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940467	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11941836	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12715709	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112790	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13123213	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13128988	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13132164	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13140495	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13435302	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13435561	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1459805	0.86[ASN][1000 genomes]
rs17239317	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1903219	0.82[ASN][1000 genomes]
rs2611626	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2611627	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2611628	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611632	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611640	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2611641	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2611642	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2611643	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2706024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706025	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2706026	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2706027	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2706028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706030	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28393241	0.82[ASN][1000 genomes]
rs28415606	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28469220	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28514681	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28564897	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28589406	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28601846	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28602232	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28607232	0.88[EUR][1000 genomes]
rs28616274	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28668804	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28685676	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28688720	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28721915	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28733452	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28759106	0.82[ASN][1000 genomes]
rs34231208	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36001839	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3811796	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4492031	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62304718	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62304719	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6551687	0.86[ASN][1000 genomes]
rs6551688	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6551689	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66468879	0.85[AMR][1000 genomes]
rs66877806	0.85[AMR][1000 genomes]
rs6827087	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7658468	0.88[EUR][1000 genomes]
rs7659035	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7663425	0.88[EUR][1000 genomes]
rs7665803	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7665993	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7669709	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7669800	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7676692	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7679301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679574	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7680436	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7694238	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7695334	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7695525	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7700012	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9312088	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs960796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992673	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9993083	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9993407	0.88[EUR][1000 genomes]
rs9993524	0.82[EUR][1000 genomes]
rs9993704	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9994116	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9996086	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9996259	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9999000	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9999659	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013327	chr4:62989426-63149048	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012093	chr4:63014592-63568580	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537113	chr4:63014592-63568580	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv534618	chr4:63025655-63568620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997505	chr4:63025663-63575696	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv594333	chr4:63025823-63467034	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv461378	chr4:63037324-63158560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv594334	chr4:63037324-63158560	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv1013850	chr4:63049885-63568580	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv537114	chr4:63049885-63568580	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv594335	chr4:63054757-63183246	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv879079	chr4:63059672-63184850	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv980448	chr4:63069447-63076690	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv594336	chr4:63075414-63183246	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1459803	TBC1D30	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:63059800-63075600	Weak transcription	Fetal Heart	heart
2	chr4:63070000-63075600	Weak transcription	Right Ventricle	heart
3	chr4:63072400-63075600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:63074400-63075800	Enhancers	Fetal Muscle Leg	muscle
5	chr4:63075000-63075600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:63075200-63076000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:63075200-63076000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:63075400-63075800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:63075400-63075800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:63075400-63076000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:63075400-63076600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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