Variant report

Variant	rs72739663
Chromosome Location	chr15:41776783-41776784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41773035..41782898-chr15:41783132..41789747,15	K562	blood:
2	chr15:41768645..41771013-chr15:41774949..41776916,2	MCF-7	breast:
3	chr15:41768860..41771518-chr15:41776158..41779055,4	K562	blood:

Variant related genes	Relation type
ENSG00000137815	Chromatin interaction
ENSG00000137825	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28479336	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28503916	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28508151	1.00[ASN][1000 genomes]
rs28631111	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662502	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4924549	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72739663	NDUFAF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41724200-41777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41753800-41776800	Strong transcription	Fetal Muscle Leg	muscle
3	chr15:41754400-41776800	Strong transcription	Placenta	Placenta
4	chr15:41757400-41776800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:41765000-41777200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr15:41765600-41776800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:41765600-41778400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:41769600-41779200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:41769600-41780200	Weak transcription	Right Atrium	heart
10	chr15:41770000-41776800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:41770200-41776800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:41770200-41777000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:41770600-41777200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:41771600-41780200	Weak transcription	Fetal Heart	heart
15	chr15:41772800-41776800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:41773000-41777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:41773000-41777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:41773000-41777000	Weak transcription	Psoas Muscle	Psoas
19	chr15:41773000-41779600	Weak transcription	HUVEC	blood vessel
20	chr15:41773200-41779200	Weak transcription	Hela-S3	cervix
21	chr15:41773400-41779600	Weak transcription	Colonic Mucosa	Colon
22	chr15:41773400-41785000	Weak transcription	A549	lung
23	chr15:41773600-41778200	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:41773800-41778600	Weak transcription	Aorta	Aorta
25	chr15:41773800-41780000	Weak transcription	HMEC	breast
26	chr15:41773800-41780200	Weak transcription	NHLF	lung
27	chr15:41773800-41784000	Weak transcription	HepG2	liver
28	chr15:41774000-41777000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:41774000-41777200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:41774000-41778800	Weak transcription	Spleen	Spleen
31	chr15:41774000-41779000	Weak transcription	Right Ventricle	heart
32	chr15:41774000-41779400	Weak transcription	Lung	lung
33	chr15:41774000-41782200	Weak transcription	Osteobl	bone
34	chr15:41774200-41777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:41774600-41779600	Weak transcription	NH-A	brain
36	chr15:41774800-41777600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:41774800-41777800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr15:41774800-41777800	Weak transcription	Fetal Brain Male	brain
39	chr15:41774800-41778000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:41774800-41784600	Weak transcription	Dnd41	blood
41	chr15:41775000-41776800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:41775000-41777200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:41775000-41779400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:41775000-41780400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:41775200-41777800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:41775400-41777600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:41775400-41777800	Weak transcription	Thymus	Thymus
48	chr15:41775400-41778400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:41775400-41779000	Weak transcription	Adipose Nuclei	Adipose
50	chr15:41775400-41779600	Weak transcription	Fetal Kidney	kidney

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