Variant report

Variant	rs34192401
Chromosome Location	chr17:16329286-16329287
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	chr17:16329128-16329355	GM12878	blood:	n/a	n/a
2	RXRA	chr17:16328903-16329386	HepG2	liver:	n/a	chr17:16329152-16329159
3	POLR2A	chr17:16328899-16329444	GM12892	blood:	n/a	n/a
4	HNF4A	chr17:16328974-16329297	HepG2	liver:	n/a	chr17:16329091-16329106 chr17:16329091-16329106 chr17:16329091-16329106
5	POLR2A	chr17:16329174-16329561	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:16328847-16329376	GM12878	blood:	n/a	n/a
7	MAX	chr17:16329104-16329461	HepG2	liver:	n/a	n/a
8	EP300	chr17:16328817-16329414	HepG2	liver:	n/a	chr17:16329321-16329337
9	RXRA	chr17:16328956-16329385	HepG2	liver:	n/a	chr17:16329152-16329159
10	EP300	chr17:16328866-16329438	HepG2	liver:	n/a	chr17:16329321-16329337
11	MYC	chr17:16329249-16329317	MCF-7	breast:	n/a	n/a
12	MAX	chr17:16328873-16329531	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:16328984-16333264	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:16329050-16329456	K562	blood:	n/a	n/a
15	EP300	chr17:16329115-16329349	HepG2	liver:	n/a	chr17:16329321-16329337
16	FOXA1	chr17:16329003-16329412	HepG2	liver:	n/a	n/a
17	FOXA2	chr17:16328749-16329693	HepG2	liver:	n/a	n/a
18	HNF4G	chr17:16328941-16329380	HepG2	liver:	n/a	chr17:16329091-16329106 chr17:16329091-16329106
19	FOXA1	chr17:16328874-16329497	HepG2	liver:	n/a	n/a
20	HNF4A	chr17:16328917-16329374	HepG2	liver:	n/a	chr17:16329091-16329106 chr17:16329091-16329106 chr17:16329091-16329106
21	HNF4A	chr17:16328900-16329374	HepG2	liver:	n/a	chr17:16329091-16329106 chr17:16329091-16329106 chr17:16329091-16329106
22	SP1	chr17:16328867-16329416	HepG2	liver:	n/a	chr17:16329176-16329185
23	BHLHE40	chr17:16329163-16329418	HepG2	liver:	n/a	n/a
24	MYC	chr17:16329262-16329305	HepG2	liver:	n/a	n/a
25	FOXA1	chr17:16328559-16329405	HepG2	liver:	n/a	n/a
26	USF1	chr17:16329179-16329392	HepG2	liver:	n/a	n/a
27	FOXA2	chr17:16328902-16329427	HepG2	liver:	n/a	n/a
28	POLR2A	chr17:16329010-16329348	HepG2	liver:	n/a	n/a
29	HDAC2	chr17:16328979-16329608	HepG2	liver:	n/a	n/a
30	FOXA1	chr17:16328867-16329438	HepG2	liver:	n/a	n/a
31	BHLHE40	chr17:16329050-16329516	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16328263..16331417-chr17:16335355..16337965,3	K562	blood:
2	chr17:16318452..16324028-chr17:16326548..16333033,12	K562	blood:
3	chr17:16282841..16285518-chr17:16329026..16332012,2	K562	blood:
4	chr17:16327763..16335480-chr17:16339357..16343915,19	MCF-7	breast:
5	chr17:16282904..16285518-chr17:16328821..16330526,2	K562	blood:
6	chr17:16321253..16326692-chr17:16327918..16333688,7	MCF-7	breast:
7	chr17:16325375..16336653-chr17:16340697..16345018,16	MCF-7	breast:

Variant related genes	Relation type
TRPV2	TF binding region
ENSG00000239203	TF binding region
ENSG00000264739	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000175061	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11078342	0.84[AMR][1000 genomes]
rs11078343	0.84[AMR][1000 genomes]
rs11078344	0.81[AMR][1000 genomes]
rs11653149	0.81[AMR][1000 genomes]
rs11654069	0.81[AMR][1000 genomes]
rs11867498	0.81[AMR][1000 genomes]
rs11871017	0.84[AMR][1000 genomes]
rs11871929	0.81[AMR][1000 genomes]
rs11871958	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11871963	0.81[AMR][1000 genomes]
rs12936240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12940078	0.84[AMR][1000 genomes]
rs17552310	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34166276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34419652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572942	0.84[AMR][1000 genomes]
rs34577506	0.84[AMR][1000 genomes]
rs34793697	0.81[AMR][1000 genomes]
rs34982046	0.81[AMR][1000 genomes]
rs35034622	0.81[AMR][1000 genomes]
rs35540454	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35774281	0.81[AMR][1000 genomes]
rs36117589	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16319400-16331400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr17:16319800-16330400	Weak transcription	Small Intestine	intestine
3	chr17:16320000-16341400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:16320600-16331800	Weak transcription	Brain Angular Gyrus	brain
5	chr17:16321000-16337400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:16321600-16331400	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:16323200-16335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:16323400-16331600	Strong transcription	Fetal Thymus	thymus
9	chr17:16323400-16333600	Weak transcription	A549	lung
10	chr17:16323400-16341600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:16323800-16334200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:16323800-16337200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:16323800-16337400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr17:16324000-16329400	Weak transcription	HSMM	muscle
15	chr17:16324000-16337400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:16324200-16333200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:16324200-16336000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:16324200-16337400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:16324600-16333200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:16324600-16337000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:16325000-16333000	Strong transcription	Osteobl	bone
22	chr17:16325200-16341400	Weak transcription	NH-A	brain
23	chr17:16325800-16332600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
24	chr17:16325800-16334200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr17:16325800-16337200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:16326800-16329400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:16326800-16330400	Weak transcription	K562	blood
28	chr17:16327000-16336600	Weak transcription	Esophagus	oesophagus
29	chr17:16327200-16329400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:16327200-16329400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:16327200-16329600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:16327200-16329800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:16327200-16330200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:16327200-16341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:16327200-16341400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:16327200-16341600	Weak transcription	Left Ventricle	heart
37	chr17:16327200-16341600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr17:16327400-16329600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:16328000-16329800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:16328200-16333000	Strong transcription	Thymus	Thymus
41	chr17:16328200-16335800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:16328400-16337000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr17:16328400-16337200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr17:16328600-16329400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:16328600-16329400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:16328600-16329400	Enhancers	Stomach Mucosa	stomach
47	chr17:16328600-16329800	Flanking Active TSS	HepG2	liver
48	chr17:16328600-16331800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:16328600-16332000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:16328600-16332200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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