Variant report

Variant	rs8036602
Chromosome Location	chr15:41543059-41543060
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	chr15:41524374..41527322-chr15:41542532..41544931,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11855102	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11858115	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971700	0.83[ASN][1000 genomes]
rs1965139	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965140	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2083239	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2164996	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28409265	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28568756	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28615543	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28665387	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28735224	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899013	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41442144	0.82[ASN][1000 genomes]
rs4419033	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4445868	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6492991	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6492993	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6492994	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6492997	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7162443	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7162503	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7166205	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7166905	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7167813	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7173086	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7175912	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9972349	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9972622	0.83[AMR][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	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
2	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
3	esv1844058	chr15:41511916-41548948	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv1045455	chr15:41536624-41620534	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8036602	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8036602	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8036602	OIP5-AS1	cis	Artery Tibial	GTEx
rs8036602	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8036602	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41524200-41546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:41524200-41554800	Weak transcription	Fetal Thymus	thymus
3	chr15:41524200-41555800	Weak transcription	Aorta	Aorta
4	chr15:41524200-41563800	Weak transcription	Small Intestine	intestine
5	chr15:41524200-41575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:41524400-41555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:41524800-41546200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:41524800-41563800	Weak transcription	Esophagus	oesophagus
9	chr15:41525000-41548400	Weak transcription	Fetal Lung	lung
10	chr15:41525200-41548200	Weak transcription	Fetal Kidney	kidney
11	chr15:41525200-41554200	Weak transcription	Fetal Brain Female	brain
12	chr15:41525200-41556400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:41525200-41575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:41525400-41556200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:41525400-41556800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:41525800-41554800	Weak transcription	Dnd41	blood
17	chr15:41525800-41575200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:41526000-41554800	Weak transcription	Brain Angular Gyrus	brain
19	chr15:41526200-41554800	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:41532400-41550600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:41533200-41548400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:41533200-41552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:41533800-41554600	Weak transcription	Brain Anterior Caudate	brain
24	chr15:41533800-41555000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:41534000-41543200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:41534000-41555200	Weak transcription	Brain Germinal Matrix	brain
27	chr15:41534200-41551000	Weak transcription	GM12878-XiMat	blood
28	chr15:41534200-41555200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:41534200-41556400	Weak transcription	Spleen	Spleen
30	chr15:41534400-41544600	Weak transcription	HSMM	muscle
31	chr15:41536600-41573600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:41536800-41555000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:41536800-41555200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:41537000-41546400	Weak transcription	K562	blood
35	chr15:41537000-41549800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:41537200-41543400	Weak transcription	Fetal Intestine Large	intestine
37	chr15:41537200-41543600	Weak transcription	Gastric	stomach
38	chr15:41537200-41544600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:41537200-41544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:41537200-41546000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr15:41537200-41548600	Weak transcription	HUVEC	blood vessel
42	chr15:41537200-41553000	Weak transcription	Colonic Mucosa	Colon
43	chr15:41537200-41555000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:41537400-41543400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:41537400-41543400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:41537400-41543400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr15:41537400-41546600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:41537400-41547800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:41537400-41555000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:41537400-41570800	Weak transcription	Ovary	ovary

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