Variant report

Variant	rs13005761
Chromosome Location	chr2:40537699-40537700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1002671	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs10490053	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs11891800	0.90[CEU][hapmap];0.92[GIH][hapmap];0.83[TSI][hapmap]
rs11902975	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995402	0.89[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13001457	0.84[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs13001473	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13026979	0.86[ASN][1000 genomes]
rs13031392	0.89[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.88[ASN][1000 genomes]
rs17025769	0.91[ASN][1000 genomes]
rs17025783	0.90[CEU][hapmap];0.90[ASN][1000 genomes]
rs17025800	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025804	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17025810	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1990607	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192769	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192770	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2192771	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.80[TSI][hapmap];0.82[ASN][1000 genomes]
rs2287051	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287053	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34409901	0.86[ASN][1000 genomes]
rs34512805	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34562238	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34609846	0.86[ASN][1000 genomes]
rs34718894	0.87[ASN][1000 genomes]
rs35042618	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35264779	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35639785	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35776185	0.93[ASN][1000 genomes]
rs35892964	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35970998	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35977357	0.94[ASN][1000 genomes]
rs4952403	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4952404	0.94[CHB][hapmap]
rs4952603	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952604	0.85[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952605	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4952607	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952608	0.96[ASN][1000 genomes]
rs4952609	0.85[CEU][hapmap]
rs56707698	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62150808	0.92[ASN][1000 genomes]
rs62150809	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62150812	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66566834	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6729923	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6730154	0.90[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68003012	0.95[ASN][1000 genomes]
rs727477	0.81[CEU][hapmap]
rs72796683	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72796684	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741287	0.85[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs759387	0.89[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs994419	0.95[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs994420	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13005761	DHX57	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40518200-40540600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40528800-40541400	Weak transcription	Dnd41	blood
3	chr2:40531800-40542600	Weak transcription	Osteobl	bone
4	chr2:40532000-40544800	Weak transcription	HSMM	muscle
5	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:40532200-40542400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:40533800-40543800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40534000-40543000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:40535600-40542600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:40536800-40541200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:40537200-40538000	Genic enhancers	Fetal Heart	heart
12	chr2:40537400-40537800	Enhancers	Right Ventricle	heart
13	chr2:40537400-40538000	Enhancers	Left Ventricle	heart
14	chr2:40537400-40538000	Enhancers	Right Atrium	heart

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