Variant report

Variant	esv3392862
Chromosome Location	chr17:33907589-33909537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:33907990-33908036	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:33907927-33907949	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:33907938-33908229	K562	blood:	n/a	n/a
4	POLR2A	chr17:33907966-33907977	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:33907847-33908114	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr17:33907585-33907850	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:33908125-33908159	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:33909232-33909282	RPTEC	kidney:	n/a
2	chr17:33909232-33909282	AG04450	lung:	fetal
3	chr17:33909232-33909282	NB4	blood:	n/a
4	chr17:33909232-33909282	IMR90	lung:	fetal
5	chr17:33909232-33909282	HCM	heart:	n/a
6	chr17:33909232-33909282	HCT-116	colon:	n/a
7	chr17:33909232-33909282	NHDF-neo	bronchial:	n/a
8	chr17:33909232-33909282	GM12891	blood:	n/a
9	chr17:33909232-33909282	HRPEpiC	eye:	n/a
10	chr17:33909232-33909282	HRCEpiC	kidney:	n/a
11	chr17:33909232-33909282	MCF10A-Er-Src	breast:	n/a
12	chr17:33909232-33909282	PrEC	prostate:	n/a
13	chr17:33909232-33909282	SK-N-MC	brain:	n/a
14	chr17:33909232-33909282	SKMC	muscle:	n/a
15	chr17:33909232-33909282	PANC-1	pancreas:	n/a
16	chr17:33909232-33909282	GM12878	blood:	n/a
17	chr17:33909232-33909282	HEEpiC	esophagus:	n/a
18	chr17:33909232-33909282	T-47D	breast:	n/a
19	chr17:33909232-33909282	NHBE	bronchial:	n/a
20	chr17:33909232-33909282	AG09309	skin:	n/a
21	chr17:33909232-33909282	CMK	blood:	n/a
22	chr17:33909232-33909282	U87	brain:	n/a
23	chr17:33909232-33909282	BJ	skin:	n/a
24	chr17:33909232-33909282	HIPEpiC	eye:	n/a
25	chr17:33909232-33909282	Caco-2	colon:	n/a
26	chr17:33909232-33909282	AoSMC	blood vessel:	n/a
27	chr17:33909232-33909282	HMEC	breast:	n/a
28	chr17:33909232-33909282	HCF	heart:	n/a
29	chr17:33909232-33909282	H1-hESC	embryonic stem cell:	embryo
30	chr17:33909232-33909282	HL-60	blood:	n/a
31	chr17:33909232-33909282	AG10803	skin:	n/a
32	chr17:33909232-33909282	ECC-1	luminal epithelium:	n/a
33	chr17:33909232-33909282	ovcar-3	ovarian:	n/a
34	chr17:33909232-33909282	LNCaP	prostate:	n/a
35	chr17:33909232-33909282	AG04449	skin:	fetal
36	chr17:33909232-33909282	AG09319	gingival:	n/a
37	chr17:33909232-33909282	GM06990	blood:	n/a
38	chr17:33909232-33909282	HEK293	kidney:	embryo
39	chr17:33909232-33909282	BE2_C	brain:	n/a
40	chr17:33909232-33909282	GM12892	blood:	n/a
41	chr17:33909232-33909282	HRE	kidney:	n/a
42	chr17:33909232-33909282	HUVEC	blood vessel:	n/a
43	chr17:33909232-33909282	K562	blood:	n/a
44	chr17:33909232-33909282	Hela-S3	cervix:	n/a
45	chr17:33909232-33909282	HepG2	liver:	n/a
46	chr17:33909232-33909282	HNPCEpiC	eye:	n/a
47	chr17:33909232-33909282	NT2-D1	testis:	n/a
48	chr17:33909232-33909282	HCPEpiC	choroid plexus:	n/a
49	chr17:33909232-33909282	PFSK-1	brain:	n/a
50	chr17:33909232-33909282	SAEC	small airway:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:
2	chr17:33903997..33907288-chr17:33908412..33910770,3	MCF-7	breast:
3	chr17:33905920..33908004-chr17:33983373..33986029,2	K562	blood:
4	chr17:33569405..33571509-chr17:33905703..33907784,3	MCF-7	breast:

No data

Variant related genes	Relation type
PEX12	TF binding region
AP2B1	TF binding region
PEX12	CpG island
AP2B1	CpG island
ENSG00000266947	chromatin interactions
ENSG00000108733	chromatin interactions
ENSG00000166750	chromatin interactions
ENSG00000006125	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575661700	chr17:33907620-33907621	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544648401	chr17:33907637-33907638	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs2889311	chr17:33907649-33907650	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs8069174	chr17:33907669-33907670	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs80260579	chr17:33907696-33907697	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs556850256	chr17:33907753-33907754	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145577554	chr17:33907799-33907800	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369850616	chr17:33907800-33907801	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184267040	chr17:33907824-33907825	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149156400	chr17:33907841-33907842	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372045969	chr17:33907892-33907893	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531351582	chr17:33907907-33907908	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs188685744	chr17:33907951-33907952	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568296555	chr17:33907957-33907958	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs527460942	chr17:33908012-33908013	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547587423	chr17:33908017-33908018	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570777902	chr17:33908054-33908055	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs62079687	chr17:33908076-33908077	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539681673	chr17:33908108-33908109	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545459281	chr17:33908137-33908138	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558686769	chr17:33908154-33908155	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569224462	chr17:33908188-33908189	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs178649	chr17:33908197-33908198	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs181154942	chr17:33908232-33908233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138325536	chr17:33908306-33908307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375536978	chr17:33908308-33908309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377657572	chr17:33908310-33908311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112596725	chr17:33908318-33908319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77442205	chr17:33908324-33908325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74350782	chr17:33908328-33908329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74651488	chr17:33908330-33908331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376954367	chr17:33908334-33908335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141236809	chr17:33908346-33908347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371335025	chr17:33908349-33908350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111655792	chr17:33908378-33908379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186172466	chr17:33908413-33908414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs527854290	chr17:33908445-33908446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574562513	chr17:33908468-33908469	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549709422	chr17:33908550-33908551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369562335	chr17:33908556-33908557	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534139624	chr17:33908557-33908558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553906318	chr17:33908568-33908569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149618824	chr17:33908570-33908571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561520108	chr17:33908571-33908572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532041769	chr17:33908572-33908573	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535563303	chr17:33908574-33908575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546471644	chr17:33908624-33908625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12452961	chr17:33908649-33908650	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575976768	chr17:33908680-33908681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148332451	chr17:33908708-33908709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33906400-33913800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33906400-33913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:33906600-33910600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:33906600-33911000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:33906600-33913400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:33906600-33913400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:33906600-33913400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:33906600-33913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:33906600-33913400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:33906600-33913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:33906600-33913400	Weak transcription	Liver	Liver
12	chr17:33906600-33913400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:33906600-33913400	Weak transcription	NHEK	skin
14	chr17:33906600-33913800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:33906600-33914000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:33906800-33910600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr17:33906800-33911000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:33906800-33913600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:33907200-33908000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:33907200-33913600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:33907200-33913800	Weak transcription	HepG2	liver
22	chr17:33907400-33911400	Weak transcription	K562	blood

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