Variant report

Variant	rs1757462
Chromosome Location	chr15:41784441-41784442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr15:41784337-41784486	K562	blood:	n/a	n/a
2	POLR2A	chr15:41784324-41784923	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41783642..41785495-chr15:41786905..41788686,2	K562	blood:
2	chr15:41784287..41786620-chr15:41827580..41829440,3	K562	blood:
3	chr15:41767730..41772843-chr15:41782564..41789351,11	K562	blood:
4	chr15:41784244..41787186-chr15:41835793..41838130,2	MCF-7	breast:
5	chr15:41783980..41786928-chr15:41835398..41839034,5	K562	blood:
6	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:

No data

Variant related genes	Relation type
ITPKA	TF binding region
ENSG00000259838	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000137815	Chromatin interaction
ENSG00000092445	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1622914	0.99[ASN][1000 genomes]
rs1655557	0.98[ASN][1000 genomes]
rs1757456	0.97[ASN][1000 genomes]
rs1757463	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2026946	0.99[ASN][1000 genomes]
rs316617	0.92[ASN][1000 genomes]
rs8024774	0.97[ASN][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1757462	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs1757462	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs1757462	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs1757462	NDUFAF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41773400-41785000	Weak transcription	A549	lung
2	chr15:41774800-41784600	Weak transcription	Dnd41	blood
3	chr15:41775400-41784800	Weak transcription	Liver	Liver
4	chr15:41775600-41784800	Weak transcription	Brain Angular Gyrus	brain
5	chr15:41776000-41784800	Weak transcription	Brain Germinal Matrix	brain
6	chr15:41776800-41784600	Weak transcription	Placenta	Placenta
7	chr15:41778600-41784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:41779800-41785200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:41780400-41784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:41780400-41784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:41780600-41784600	Weak transcription	Right Atrium	heart
12	chr15:41780600-41784800	Weak transcription	Lung	lung
13	chr15:41781800-41785000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:41781800-41785000	Enhancers	NHDF-Ad	bronchial
15	chr15:41781800-41785200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:41782000-41784800	Enhancers	GM12878-XiMat	blood
17	chr15:41782000-41784800	Enhancers	Hela-S3	cervix
18	chr15:41782000-41784800	Enhancers	NHLF	lung
19	chr15:41782200-41785000	Enhancers	HUVEC	blood vessel
20	chr15:41782200-41785200	Enhancers	NH-A	brain
21	chr15:41782400-41785000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:41782600-41784600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:41783400-41784600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:41783400-41784800	Genic enhancers	Fetal Intestine Small	intestine
25	chr15:41783400-41785000	Enhancers	Spleen	Spleen
26	chr15:41783400-41785400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:41783600-41784600	Weak transcription	HSMM	muscle
28	chr15:41783600-41784800	Enhancers	Duodenum Mucosa	Duodenum
29	chr15:41783600-41784800	Enhancers	Fetal Intestine Large	intestine
30	chr15:41783600-41785000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:41783600-41785000	Enhancers	Stomach Mucosa	stomach
32	chr15:41783800-41784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:41783800-41784800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr15:41783800-41785200	Enhancers	Pancreas	Pancrea
35	chr15:41784000-41784600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:41784000-41784600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:41784000-41784600	Enhancers	HepG2	liver
38	chr15:41784000-41784800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:41784000-41784800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr15:41784000-41784800	Enhancers	Right Ventricle	heart
41	chr15:41784000-41784800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr15:41784000-41785000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:41784200-41784800	Enhancers	K562	blood
44	chr15:41784200-41785000	Bivalent Enhancer	Fetal Heart	heart
45	chr15:41784200-41785200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr15:41784400-41784600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:41784400-41784600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
48	chr15:41784400-41784800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr15:41784400-41784800	Bivalent Enhancer	Colon Smooth Muscle	Colon
50	chr15:41784400-41784800	Weak transcription	NHEK	skin

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