Variant report

Variant	rs522063
Chromosome Location	chr15:41476209-41476210
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	chr15:41366851..41369456-chr15:41474724..41476763,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10518717	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10851403	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070328	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11629979	1.00[ASN][1000 genomes]
rs11630656	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11635269	1.00[ASN][1000 genomes]
rs11635565	1.00[ASN][1000 genomes]
rs11852419	0.93[EUR][1000 genomes]
rs11854081	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11854632	1.00[ASN][1000 genomes]
rs11854820	1.00[ASN][1000 genomes]
rs11855854	0.89[EUR][1000 genomes]
rs11856169	0.81[EUR][1000 genomes]
rs13313520	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13329235	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329579	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971726	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs17730589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17730888	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1866399	1.00[ASN][1000 genomes]
rs1899	1.00[ASN][1000 genomes]
rs2118740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2448402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28374715	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap]
rs28377562	1.00[ASN][1000 genomes]
rs28382348	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421136	1.00[ASN][1000 genomes]
rs28437576	1.00[ASN][1000 genomes]
rs28458941	1.00[ASN][1000 genomes]
rs28463309	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28477406	1.00[ASN][1000 genomes]
rs28492932	1.00[ASN][1000 genomes]
rs28493087	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493702	1.00[CHB][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs28516832	0.81[EUR][1000 genomes]
rs28524914	0.91[EUR][1000 genomes]
rs28535540	1.00[ASN][1000 genomes]
rs28538451	0.93[EUR][1000 genomes]
rs28554139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs28557159	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28584379	1.00[ASN][1000 genomes]
rs28617619	1.00[ASN][1000 genomes]
rs28623183	1.00[ASN][1000 genomes]
rs28661013	1.00[ASN][1000 genomes]
rs28687846	1.00[ASN][1000 genomes]
rs28703570	1.00[ASN][1000 genomes]
rs28712264	1.00[ASN][1000 genomes]
rs28716689	1.00[ASN][1000 genomes]
rs28827035	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28897479	1.00[ASN][1000 genomes]
rs3204853	1.00[ASN][1000 genomes]
rs513280	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533210	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56400990	1.00[ASN][1000 genomes]
rs59000092	1.00[ASN][1000 genomes]
rs6493000	1.00[ASN][1000 genomes]
rs691011	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691629	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs691906	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162231	1.00[ASN][1000 genomes]
rs7163989	1.00[ASN][1000 genomes]
rs7165396	1.00[ASN][1000 genomes]
rs7165914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7167706	1.00[ASN][1000 genomes]
rs7168002	1.00[ASN][1000 genomes]
rs7168307	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7168431	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7169543	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7181982	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7182324	1.00[ASN][1000 genomes]
rs72737786	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737792	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737793	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739630	1.00[ASN][1000 genomes]
rs8023530	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8034840	1.00[ASN][1000 genomes]
rs8036026	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8037574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8038132	1.00[ASN][1000 genomes]
rs8038983	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043237	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv569230	chr15:41384649-41483682	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv904109	chr15:41410705-41481254	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1039906	chr15:41476209-41518976	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs522063	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs522063	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs522063	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs522063	NDUFAF1	cis	cerebellum	SCAN
rs522063	NUSAP1	cis	cerebellum	SCAN
rs522063	NDUFAF1	cis	Thyroid	GTEx
rs522063	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs522063	NDUFAF1	cis	parietal	SCAN
rs522063	NDUFAF1	cis	Whole Blood	GTEx
rs522063	NDUFAF1	cis	Muscle Skeletal	GTEx
rs522063	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs522063	GPR176	cis	parietal	SCAN
rs522063	NUSAP1	cis	parietal	SCAN
rs522063	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs522063	GPR176	cis	cerebellum	SCAN
rs522063	NDUFAF1	cis	multi-tissue	Pritchard
rs522063	NDUFAF1	cis	lymphoblastoid	seeQTL
rs522063	OIP5-AS1	cis	Artery Tibial	GTEx
rs522063	BUB1B	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41474400-41476800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:41474600-41476600	Enhancers	Osteobl	bone
3	chr15:41475600-41476800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:41475600-41476800	Enhancers	A549	lung
5	chr15:41475800-41476400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr15:41475800-41476800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:41475800-41476800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:41476000-41476400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr15:41476000-41476400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:41476000-41476400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr15:41476000-41476400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:41476000-41476600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:41476000-41476600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:41476000-41476600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:41476000-41476800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:41476000-41476800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:41476000-41476800	Enhancers	NH-A	brain
18	chr15:41476000-41476800	Enhancers	NHLF	lung
19	chr15:41476200-41476400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr15:41476200-41476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:41476200-41476800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:41476200-41476800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links