Variant report

Variant	esv1851673
Chromosome Location	chr17:60337172-60339372
allele	n/a
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	EBF1	chr17:60339090-60339298	GM12878	blood:	n/a	n/a
2	FOSL2	chr17:60336891-60337550	HepG2	liver:	n/a	n/a
3	FOSL2	chr17:60337558-60339641	HepG2	liver:	n/a	chr17:60338951-60338962 chr17:60339141-60339151 chr17:60339141-60339151 chr17:60339141-60339151 chr17:60338103-60338114
4	FOSL2	chr17:60337059-60337805	HepG2	liver:	n/a	n/a
5	FOXA1	chr17:60337174-60337652	HepG2	liver:	n/a	n/a
6	FOXA2	chr17:60337125-60337779	A549	lung:	n/a	n/a
7	GABPA	chr17:60338473-60338638	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr17:60338311-60338677	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr17:60337179-60337397	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr17:60336854-60337504	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr17:60337763-60338192	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr17:60337942-60338148	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr17:60339077-60339312	Hela-S3	cervix:	n/a	n/a
14	HEY1	chr17:60337177-60337446	K562	blood:	n/a	n/a
15	JUND	chr17:60337259-60337479	HepG2	liver:	n/a	n/a
16	PAX5	chr17:60338851-60339023	GM12878	blood:	n/a	n/a
17	PAX5	chr17:60338402-60338652	GM12878	blood:	n/a	n/a
18	PAX5	chr17:60337968-60338171	GM12878	blood:	n/a	n/a
19	PAX5	chr17:60337983-60338181	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:60337928-60338201	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:60337118-60339356	GM12891	blood:	n/a	n/a
22	POLR2A	chr17:60337587-60338217	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr17:60338772-60339274	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr17:60338226-60339623	GM12891	blood:	n/a	n/a
25	POLR2A	chr17:60338323-60338723	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr17:60336767-60337470	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr17:60338367-60339461	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr17:60338480-60338713	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:60337251-60337420	GM12878	blood:	n/a	n/a
30	POLR2A	chr17:60336810-60340382	GM12892	blood:	n/a	n/a
31	POLR2A	chr17:60337181-60337533	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr17:60337053-60339646	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:60338900-60339236	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:60337676-60337875	GM12878	blood:	n/a	n/a
35	POU2F2	chr17:60339332-60339626	GM12878	blood:	n/a	n/a
36	POU2F2	chr17:60338337-60339218	GM12878	blood:	n/a	chr17:60338727-60338740
37	POU2F2	chr17:60337074-60337551	GM12878	blood:	n/a	n/a
38	RXRA	chr17:60338870-60339290	HepG2	liver:	n/a	n/a
39	RXRA	chr17:60336594-60337437	HepG2	liver:	n/a	chr17:60336857-60336866 chr17:60337076-60337090
40	SIN3AK20	chr17:60338436-60338582	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr17:60338015-60338139	HepG2	liver:	n/a	n/a
42	SIX5	chr17:60339355-60339598	K562	blood:	n/a	n/a
43	SIX5	chr17:60337132-60337452	K562	blood:	n/a	n/a
44	SP1	chr17:60337131-60337418	GM12878	blood:	n/a	n/a
45	SPI1	chr17:60338894-60339041	K562	blood:	n/a	n/a
46	TCF3	chr17:60338805-60339012	GM12878	blood:	n/a	chr17:60338829-60338842
47	USF1	chr17:60338022-60338178	HepG2	liver:	n/a	n/a
48	USF1	chr17:60337184-60337392	HepG2	liver:	n/a	n/a
49	USF1	chr17:60339109-60339244	HepG2	liver:	n/a	n/a
50	USF1	chr17:60338896-60339065	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB3-5	chr17:60339222-60339297	NONHSAT055148
2	lnc-EFCAB3-5	chr17:60337995-60338134	NONHSAT055148

Variant related genes	Relation type
ENSG00000266647	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527443163	chr17:60337200-60337201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541113114	chr17:60337206-60337207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs564560754	chr17:60337213-60337214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530273690	chr17:60337235-60337236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550082494	chr17:60337238-60337239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569980422	chr17:60337284-60337285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529258040	chr17:60337290-60337291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575443420	chr17:60337294-60337295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111319255	chr17:60337320-60337321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373166687	chr17:60337340-60337341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566060216	chr17:60337389-60337390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139475599	chr17:60337408-60337409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558213029	chr17:60337416-60337417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570579097	chr17:60337435-60337436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs148526796	chr17:60337486-60337487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs142859903	chr17:60337489-60337490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs151072559	chr17:60337490-60337491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537620083	chr17:60337502-60337503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576360746	chr17:60337506-60337507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535747183	chr17:60337562-60337563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555110976	chr17:60337576-60337577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571992908	chr17:60337596-60337597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs540797012	chr17:60337633-60337634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564180653	chr17:60337634-60337635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs578121918	chr17:60337638-60337639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543569016	chr17:60337680-60337681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs563640857	chr17:60337687-60337688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529589410	chr17:60337771-60337772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549254927	chr17:60337798-60337799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559519617	chr17:60337824-60337825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372877225	chr17:60337840-60337841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs62069077	chr17:60337860-60337861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs8070677	chr17:60337887-60337888	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539649869	chr17:60337892-60337893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs550048985	chr17:60337907-60337908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569858494	chr17:60337915-60337916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74415980	chr17:60337932-60337933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs142286473	chr17:60337934-60337935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555615716	chr17:60337966-60337967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571968787	chr17:60337968-60337969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs534576558	chr17:60337969-60337970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145734734	chr17:60337970-60337971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs577271032	chr17:60337978-60337979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530507352	chr17:60338026-60338027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs543109721	chr17:60338055-60338056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs563578786	chr17:60338062-60338063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
lymphocytic leukemia	21291569	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
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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