Variant report

Variant	rs17184526
Chromosome Location	chr14:24667051-24667052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24663324-24667470	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24666822-24667245	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
2	chr14:24644381..24646696-chr14:24665160..24667819,2	K562	blood:

Variant related genes	Relation type
TM9SF1	TF binding region
ENSG00000100918	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000139908	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1242023	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588742	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588782	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589157	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs2234095	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234096	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295318	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs2295319	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs3814815	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs55949103	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72694306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694311	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72694312	0.90[AMR][1000 genomes];0.88[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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs17184526	CPNE6	cis	cerebellum	SCAN
rs17184526	MRPL52	cis	cerebellum	SCAN
rs17184526	REC8	cis	parietal	SCAN
rs17184526	TMEM55B	cis	cerebellum	SCAN
rs17184526	LTB4R2	cis	cerebellum	SCAN
rs17184526	CHMP4A	cis	cerebellum	SCAN
rs17184526	PPP1R3E	cis	cerebellum	SCAN
rs17184526	RNF31	cis	parietal	SCAN
rs17184526	STXBP6	cis	cerebellum	SCAN
rs17184526	CMA1	cis	cerebellum	SCAN
rs17184526	OR4K1	cis	parietal	SCAN
rs17184526	SALL2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24665600-24668000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:24665600-24670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:24665600-24674800	Weak transcription	Esophagus	oesophagus
4	chr14:24665800-24670600	Weak transcription	Spleen	Spleen
5	chr14:24665800-24670800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:24665800-24675000	Weak transcription	Aorta	Aorta
7	chr14:24665800-24681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:24666000-24667200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:24666000-24667200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:24666000-24667200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:24666000-24667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:24666000-24667400	Enhancers	Primary B cells from cord blood	blood
13	chr14:24666000-24667800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:24666000-24667800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:24666000-24667800	Weak transcription	A549	lung
16	chr14:24666000-24668000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:24666000-24668000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:24666000-24668600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:24666000-24670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:24666000-24670400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:24666000-24670600	Weak transcription	Fetal Kidney	kidney
22	chr14:24666000-24670800	Weak transcription	Brain Substantia Nigra	brain
23	chr14:24666000-24670800	Weak transcription	HMEC	breast
24	chr14:24666000-24672200	Weak transcription	NHLF	lung
25	chr14:24666000-24674200	Weak transcription	Gastric	stomach
26	chr14:24666000-24674800	Weak transcription	Ovary	ovary
27	chr14:24666000-24675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:24666000-24675800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:24666200-24667200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:24666200-24667400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:24666200-24667800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:24666200-24668000	Weak transcription	Colonic Mucosa	Colon
33	chr14:24666200-24668000	Weak transcription	Left Ventricle	heart
34	chr14:24666200-24668000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:24666200-24668400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:24666200-24668800	Enhancers	Fetal Intestine Large	intestine
37	chr14:24666200-24668800	Genic enhancers	Placenta	Placenta
38	chr14:24666200-24670400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:24666200-24670600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:24666200-24670600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:24666200-24670600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:24666200-24670600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:24666200-24670600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:24666200-24673200	Weak transcription	Psoas Muscle	Psoas
45	chr14:24666600-24667200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:24666600-24667200	Enhancers	Dnd41	blood
47	chr14:24666600-24667800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:24666600-24667800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:24666600-24667800	Weak transcription	Adipose Nuclei	Adipose
50	chr14:24666600-24667800	Weak transcription	Liver	Liver

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