Variant report

Variant	rs4924532
Chromosome Location	chr15:41284122-41284123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41279189..41280997-chr15:41281365..41284292,2	MCF-7	breast:
2	chr15:41278440..41281104-chr15:41283285..41284820,2	K562	blood:
3	chr15:41276343..41279940-chr15:41283285..41287659,3	K562	blood:
4	chr15:41281416..41284789-chr15:41286455..41289587,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1001341	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1009913	0.82[ASN][1000 genomes]
rs11855248	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12899590	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12905926	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12910027	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13329511	0.86[ASN][1000 genomes]
rs1869907	0.81[EUR][1000 genomes]
rs2412572	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412574	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28473405	0.85[ASN][1000 genomes]
rs28479904	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28501589	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28572344	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28581803	0.81[ASN][1000 genomes]
rs2925342	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2925343	0.86[ASN][1000 genomes]
rs2925345	0.84[EUR][1000 genomes]
rs2925346	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2927061	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2927062	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3100807	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3101436	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3214068	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3900905	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3986311	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4244584	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4497658	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4923890	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7162992	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7169375	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7171437	0.86[ASN][1000 genomes]
rs72737704	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8030306	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4924532	NDUFAF1	cis	Muscle Skeletal	GTEx
rs4924532	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41258800-41348400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41266800-41290000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:41266800-41298400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:41267200-41294800	Strong transcription	Primary T cells from cord blood	blood
5	chr15:41267600-41294200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:41267600-41301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:41267800-41284400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:41267800-41284600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:41267800-41290200	Strong transcription	NHEK	skin
10	chr15:41267800-41290800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:41267800-41294200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:41267800-41301400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:41268000-41284800	Strong transcription	Fetal Intestine Small	intestine
14	chr15:41268000-41285000	Strong transcription	Dnd41	blood
15	chr15:41268000-41290200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:41268000-41292800	Strong transcription	Liver	Liver
17	chr15:41268000-41294800	Strong transcription	Fetal Thymus	thymus
18	chr15:41268000-41298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:41268000-41302400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:41268200-41284400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:41268200-41290200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:41268200-41295000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr15:41268600-41289800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:41268800-41285000	Strong transcription	Hela-S3	cervix
25	chr15:41272600-41285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:41276200-41296000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:41276600-41290800	Weak transcription	Psoas Muscle	Psoas
28	chr15:41276600-41354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:41276800-41293600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:41276800-41305200	Weak transcription	Fetal Brain Male	brain
31	chr15:41277600-41290000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:41278000-41287800	Weak transcription	Gastric	stomach
33	chr15:41278000-41294800	Strong transcription	Fetal Muscle Leg	muscle
34	chr15:41278400-41290000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:41278600-41287800	Weak transcription	Right Ventricle	heart
36	chr15:41279000-41284800	Strong transcription	HSMM	muscle
37	chr15:41279600-41287600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:41279600-41288000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:41279600-41293400	Weak transcription	Small Intestine	intestine
40	chr15:41279600-41293400	Weak transcription	Stomach Mucosa	stomach
41	chr15:41279800-41298200	Weak transcription	Fetal Heart	heart
42	chr15:41280000-41284400	Weak transcription	Fetal Kidney	kidney
43	chr15:41280000-41284400	Weak transcription	NHDF-Ad	bronchial
44	chr15:41280000-41288000	Weak transcription	Colonic Mucosa	Colon
45	chr15:41280200-41284200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:41280200-41285000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:41280200-41287400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:41280200-41287400	Weak transcription	Fetal Brain Female	brain
49	chr15:41280200-41293600	Weak transcription	Aorta	Aorta
50	chr15:41280200-41306600	Weak transcription	Placenta Amnion	Placenta Amnion

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