Variant report

Variant	rs2950232
Chromosome Location	chr5:60323119-60323120
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	chr5:60321206..60323750-chr5:60323786..60326003,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10471503	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10939874	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11951504	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11951606	0.91[CEU][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12696976	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13189346	0.89[ASN][1000 genomes]
rs13357828	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs158563	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158565	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158566	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158567	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158568	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158569	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158916	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158920	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158925	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158926	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158928	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609041	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162229	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162231	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162232	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162233	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162235	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162236	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162237	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162239	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162240	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162250	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167912	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170658	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs182351	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867597	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2306350	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306351	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248678	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248679	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248680	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2619891	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619892	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290504	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290508	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2909851	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2928243	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928246	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295556	0.85[EUR][1000 genomes]
rs295557	0.85[EUR][1000 genomes]
rs295565	0.85[EUR][1000 genomes]
rs295567	0.86[EUR][1000 genomes]
rs329614	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329615	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs329618	0.95[EUR][1000 genomes]
rs329619	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329620	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329627	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34425764	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34595	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34598	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs34599	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34640	0.84[EUR][1000 genomes]
rs34641	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35319315	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35383830	0.86[EUR][1000 genomes]
rs3797562	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4395591	0.81[EUR][1000 genomes]
rs4647078	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4647108	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4647135	0.91[ASN][1000 genomes]
rs4647155	0.84[YRI][hapmap]
rs4647168	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4700398	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4700401	0.89[ASN][1000 genomes]
rs6449506	0.85[ASN][1000 genomes]
rs6449507	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6449508	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6449509	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6449510	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6869332	1.00[CEU][hapmap]
rs6871236	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7445953	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7700975	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7714071	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7717909	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7731760	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9291704	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518695	chr5:60266875-60329624	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2950232	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60310400-60325400	Weak transcription	Psoas Muscle	Psoas
2	chr5:60312800-60325400	Weak transcription	Left Ventricle	heart
3	chr5:60316600-60323800	Weak transcription	Fetal Brain Male	brain
4	chr5:60318000-60325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:60319800-60324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:60319800-60324800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:60319800-60325200	Weak transcription	NHDF-Ad	bronchial
8	chr5:60319800-60325400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:60319800-60325400	Weak transcription	Aorta	Aorta
10	chr5:60320000-60324800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:60320000-60325200	Weak transcription	NHLF	lung
12	chr5:60321600-60325200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:60322200-60325000	Weak transcription	Fetal Brain Female	brain
14	chr5:60322800-60323200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:60323000-60323200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood

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