Variant report

Variant	rs316622
Chromosome Location	chr15:41799079-41799080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1077809	0.95[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.93[ASN][1000 genomes]
rs10851405	0.83[ASN][1000 genomes]
rs11070331	0.88[ASN][1000 genomes]
rs1200340	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1200348	0.80[CHD][hapmap]
rs1200349	0.80[CHD][hapmap]
rs1867419	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2253936	0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.85[ASN][1000 genomes]
rs2289739	0.82[ASW][hapmap]
rs2297377	0.89[JPT][hapmap]
rs2777490	1.00[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs316620	0.89[EUR][1000 genomes]
rs316623	1.00[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3759793	0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8035331	0.83[ASN][1000 genomes]
rs8035575	0.88[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs316622	RPAP1	cis	parietal	SCAN
rs316622	SPTBN5	cis	parietal	SCAN
rs316622	BMF	cis	parietal	SCAN
rs316622	NUSAP1	cis	brain	BrainEAC
rs316622	NDUFAF1	cis	parietal	SCAN
rs316622	NDUFAF1	cis	lymphoblastoid	seeQTL
rs316622	RPAP1	cis	lymphoblastoid	seeQTL
rs316622	SPINT1	cis	parietal	SCAN
rs316622	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs316622	BUB1B	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41789400-41802600	Weak transcription	K562	blood
2	chr15:41795200-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:41795200-41800000	Weak transcription	Liver	Liver
4	chr15:41795400-41800000	Weak transcription	Pancreas	Pancrea
5	chr15:41795400-41803600	Weak transcription	Lung	lung
6	chr15:41795400-41804200	Weak transcription	Right Atrium	heart
7	chr15:41795600-41799400	Weak transcription	Colonic Mucosa	Colon
8	chr15:41795600-41799400	Weak transcription	Gastric	stomach
9	chr15:41795600-41799400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:41795600-41801200	Strong transcription	Fetal Intestine Small	intestine
11	chr15:41796400-41800000	Weak transcription	HMEC	breast
12	chr15:41796600-41800200	Weak transcription	Esophagus	oesophagus
13	chr15:41796800-41799200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:41797000-41799400	Weak transcription	Fetal Intestine Large	intestine
15	chr15:41798200-41803000	Weak transcription	Spleen	Spleen
16	chr15:41798800-41801600	Enhancers	Stomach Mucosa	stomach
17	chr15:41799000-41801600	Enhancers	Duodenum Mucosa	Duodenum

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

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