Variant report

Variant	rs17253702
Chromosome Location	chr14:55583883-55583884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55574274..55575909-chr14:55583164..55584715,2	K562	blood:
2	chr14:55582371..55584730-chr14:55586498..55588100,2	K562	blood:
3	chr14:55518099..55519686-chr14:55582023..55584593,2	K562	blood:
4	chr14:55583659..55586455-chr14:55591189..55593234,2	K562	blood:
5	chr14:55572892..55577828-chr14:55580219..55584664,6	K562	blood:
6	chr14:55570137..55572731-chr14:55581864..55585022,3	MCF-7	breast:
7	chr14:55583230..55586186-chr14:55586316..55587998,2	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10140857	1.00[JPT][hapmap]
rs11622636	0.80[JPT][hapmap]
rs11622740	0.90[JPT][hapmap]
rs17253695	0.82[JPT][hapmap]
rs17672364	0.80[JPT][hapmap]
rs2075603	0.90[JPT][hapmap]
rs2274273	0.90[JPT][hapmap]
rs2296489	0.90[JPT][hapmap]
rs3759667	0.80[JPT][hapmap]
rs3825613	0.90[JPT][hapmap]
rs4644	0.90[JPT][hapmap]
rs56098354	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68175860	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73271727	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17253702	TRIM9	cis	parietal	SCAN
rs17253702	FBXO34	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55575000-55589600	Weak transcription	Small Intestine	intestine
3	chr14:55575200-55584400	Weak transcription	Esophagus	oesophagus
4	chr14:55575600-55584600	Weak transcription	Ovary	ovary
5	chr14:55575800-55584800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:55576800-55584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
8	chr14:55578200-55584600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:55578400-55584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:55578400-55588000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:55580200-55589000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:55580600-55585200	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:55581400-55585600	Enhancers	Stomach Mucosa	stomach
14	chr14:55581600-55584600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:55582000-55585600	Enhancers	Left Ventricle	heart
16	chr14:55582200-55584600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr14:55582200-55585600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr14:55582200-55585800	Enhancers	K562	blood
19	chr14:55582200-55588200	Enhancers	Right Atrium	heart
20	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:55582400-55584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:55582400-55589000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:55582600-55584600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:55583200-55584000	Flanking Active TSS	HepG2	liver
25	chr14:55583200-55584800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:55583400-55584000	Enhancers	Fetal Muscle Leg	muscle
27	chr14:55583400-55584000	Enhancers	Right Ventricle	heart
28	chr14:55583400-55584000	Enhancers	HSMM	muscle
29	chr14:55583400-55584400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:55583600-55584000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr14:55583600-55584600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:55583600-55584600	Weak transcription	Fetal Heart	heart
33	chr14:55583600-55584600	Weak transcription	Placenta	Placenta
34	chr14:55583600-55584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:55583600-55584800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:55583600-55587200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:55583600-55588800	Weak transcription	Fetal Kidney	kidney
38	chr14:55583800-55584000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr14:55583800-55584400	Weak transcription	Colonic Mucosa	Colon
40	chr14:55583800-55584800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:55583800-55585000	Weak transcription	Primary B cells from cord blood	blood
42	chr14:55583800-55586600	Weak transcription	Spleen	Spleen
43	chr14:55583800-55587400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:55583800-55589200	Weak transcription	Lung	lung
45	chr14:55583800-55589200	Weak transcription	Pancreas	Pancrea
46	chr14:55583800-55591600	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links