Variant report

Variant	rs256350
Chromosome Location	chr5:59140876-59140877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1003218	0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1003219	0.84[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10042020	0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10066777	0.88[ASN][1000 genomes]
rs10514880	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13186506	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs1369286	0.91[ASN][1000 genomes]
rs154144	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs159608	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs159610	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs159621	0.86[TSI][hapmap]
rs159622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159625	0.86[TSI][hapmap]
rs159626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890200	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs16890226	0.84[CHB][hapmap]
rs16890228	0.84[CHB][hapmap]
rs16890269	0.92[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs16890276	0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs16890316	0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs173945	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17742447	0.86[TSI][hapmap]
rs181924	0.82[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs256348	0.87[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs256353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs298060	0.83[TSI][hapmap]
rs298064	0.83[TSI][hapmap]
rs298101	0.86[TSI][hapmap]
rs6859121	0.84[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6868846	0.92[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs6889984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv515987	chr5:59128754-59140876	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs256350	ELOVL7	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59128200-59160400	Weak transcription	Aorta	Aorta
2	chr5:59129800-59143000	Weak transcription	Fetal Brain Male	brain
3	chr5:59134600-59141400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:59137200-59143400	Enhancers	Hela-S3	cervix
5	chr5:59138000-59141000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:59139000-59143000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:59139800-59141600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:59140800-59141000	Enhancers	Pancreas	Pancrea
9	chr5:59140800-59141000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:59140800-59141200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:59140800-59141400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:59140800-59141800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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