Variant report

Variant	rs1757459
Chromosome Location	chr15:41790987-41790988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12440111	0.80[EUR][1000 genomes]
rs1617832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170296	1.00[ASW][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes]
rs1757457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1757460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578550	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316607	1.00[LWK][hapmap]
rs316618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv33378	chr15:41786505-41805760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs1757459	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs1757459	NDUFAF1	cis	Muscle Skeletal	GTEx
rs1757459	NUSAP1	cis	parietal	SCAN
rs1757459	FSIP1	cis	cerebellum	SCAN
rs1757459	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs1757459	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs1757459	GPR176	cis	parietal	SCAN
rs1757459	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs1757459	GPR176	cis	cerebellum	SCAN
rs1757459	NDUFAF1	cis	cerebellum	SCAN
rs1757459	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs1757459	NDUFAF1	cis	lymphoblastoid	seeQTL
rs1757459	RPAP1	cis	parietal	SCAN
rs1757459	NDUFAF1	cis	parietal	SCAN
rs1757459	NUSAP1	cis	cerebellum	SCAN
rs1757459	NDUFAF1	cis	multi-tissue	Pritchard
rs1757459	OIP5-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41788600-41791000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:41788800-41793400	Weak transcription	Pancreas	Pancrea
3	chr15:41788800-41793800	Weak transcription	Liver	Liver
4	chr15:41789000-41791000	Genic enhancers	Fetal Intestine Small	intestine
5	chr15:41789400-41794000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:41789400-41794200	Weak transcription	Gastric	stomach
7	chr15:41789400-41802600	Weak transcription	K562	blood
8	chr15:41789600-41798200	Weak transcription	HepG2	liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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