Variant report

Variant	rs17715742
Chromosome Location	chr15:41206630-41206631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41206351..41206914-chr15:41476761..41477648,2	K562	blood:
2	chr15:41197734..41201998-chr15:41203561..41207172,6	K562	blood:
3	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
4	chr15:41195706..41196650-chr15:41206529..41207456,2	K562	blood:
5	chr15:41197444..41200500-chr15:41205314..41208941,3	MCF-7	breast:
6	chr15:41204562..41209137-chr15:41220021..41226170,6	K562	blood:
7	chr15:41197749..41200811-chr15:41204877..41207703,3	K562	blood:
8	chr15:41206507..41209083-chr15:41209333..41212226,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251161	Chromatin interaction
ENSG00000128917	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12050497	0.94[EUR][1000 genomes]
rs17659152	0.88[EUR][1000 genomes]
rs17659661	1.00[CHB][hapmap]
rs6492970	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv3373227	chr15:41204260-41208558	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17715742	C15orf53	cis	cerebellum	SCAN
rs17715742	GPR176	cis	parietal	SCAN
rs17715742	C15orf57	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41199800-41210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr15:41200000-41209400	Weak transcription	Fetal Brain Female	brain
3	chr15:41200200-41209800	Weak transcription	Right Ventricle	heart
4	chr15:41200600-41206800	Weak transcription	Brain Germinal Matrix	brain
5	chr15:41202200-41208000	Weak transcription	Pancreas	Pancrea
6	chr15:41202400-41210000	Weak transcription	Left Ventricle	heart
7	chr15:41202600-41207000	Weak transcription	Right Atrium	heart
8	chr15:41203400-41207800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:41203600-41207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:41203600-41214400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:41203800-41207000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:41203800-41207000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:41203800-41207200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:41203800-41209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:41204200-41207600	Weak transcription	Fetal Intestine Small	intestine
16	chr15:41204600-41210400	Weak transcription	Gastric	stomach
17	chr15:41204800-41207000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:41204800-41207000	Weak transcription	Fetal Stomach	stomach
19	chr15:41204800-41207600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:41205000-41207800	Weak transcription	Fetal Intestine Large	intestine
21	chr15:41205200-41206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:41205200-41207000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:41205400-41207200	Weak transcription	Fetal Thymus	thymus
24	chr15:41205400-41207400	Weak transcription	Placenta	Placenta
25	chr15:41205800-41209000	Enhancers	Fetal Muscle Leg	muscle
26	chr15:41206000-41207000	Enhancers	Lung	lung
27	chr15:41206200-41207000	Enhancers	HepG2	liver
28	chr15:41206200-41207200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr15:41206200-41208200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:41206200-41208400	Enhancers	Adipose Nuclei	Adipose
31	chr15:41206200-41208400	Enhancers	HUVEC	blood vessel
32	chr15:41206200-41212200	Enhancers	Spleen	Spleen
33	chr15:41206400-41207800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr15:41206400-41209800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:41206600-41206800	Enhancers	Stomach Smooth Muscle	stomach
36	chr15:41206600-41207000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:41206600-41207200	Weak transcription	Fetal Lung	lung
38	chr15:41206600-41207800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:41206600-41208800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:41206600-41210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:41206600-41214400	Weak transcription	Fetal Kidney	kidney

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