Variant report

Variant	esv3437570
Chromosome Location	chr17:60352170-60355368
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	BHLHE40	chr17:60352818-60353029	HepG2	liver:	n/a	n/a
2	CTCF	chr17:60354696-60354799	Medullo	brain:	n/a	n/a
3	EP300	chr17:60352502-60352826	GM12878	blood:	n/a	n/a
4	FOSL2	chr17:60347209-60353906	HepG2	liver:	n/a	chr17:60347245-60347257 chr17:60352632-60352643 chr17:60352137-60352146 chr17:60348579-60348589
5	GABPA	chr17:60352247-60352889	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr17:60352838-60353000	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr17:60353005-60353408	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr17:60351991-60352200	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr17:60353185-60353381	Hela-S3	cervix:	n/a	n/a
10	JUND	chr17:60352516-60353107	HepG2	liver:	n/a	chr17:60352632-60352643
11	JUND	chr17:60353145-60353395	HepG2	liver:	n/a	n/a
12	JUND	chr17:60354424-60354604	HepG2	liver:	n/a	chr17:60354483-60354494
13	JUND	chr17:60352503-60352836	HepG2	liver:	n/a	chr17:60352632-60352643
14	NR3C1	chr17:60342123-60352272	A549	lung:	n/a	chr17:60349160-60349173 chr17:60344124-60344137 chr17:60348422-60348429 chr17:60343424-60343441 chr17:60344344-60344359 chr17:60348437-60348450 chr17:60345859-60345872 chr17:60352154-60352180 chr17:60346023-60346036 chr17:60343391-60343404 chr17:60344393-60344400 chr17:60350692-60350705
15	PAX5	chr17:60352381-60353372	GM12878	blood:	n/a	n/a
16	PAX5	chr17:60352666-60353055	GM12878	blood:	n/a	n/a
17	PAX5	chr17:60352771-60353030	GM12878	blood:	n/a	n/a
18	PAX5	chr17:60352619-60353406	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:60352764-60353424	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:60352073-60353906	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr17:60352812-60353403	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr17:60352338-60353377	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:60352347-60353401	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr17:60353107-60353254	H1-hESC	embryonic stem cell:	n/a	n/a
25	POU2F2	chr17:60353232-60353373	GM12878	blood:	n/a	n/a
26	POU2F2	chr17:60354395-60354909	GM12878	blood:	n/a	n/a
27	POU2F2	chr17:60353447-60353774	GM12878	blood:	n/a	n/a
28	POU2F2	chr17:60352228-60353446	GM12878	blood:	n/a	n/a
29	REST	chr17:60352269-60353378	PANC-1	pancreas:	n/a	chr17:60353233-60353246 chr17:60353291-60353304
30	RXRA	chr17:60352538-60352927	HepG2	liver:	n/a	chr17:60352889-60352911
31	SIN3AK20	chr17:60353176-60353288	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr17:60352860-60352982	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr17:60353489-60353614	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr17:60352462-60352627	HepG2	liver:	n/a	n/a
35	SIX5	chr17:60351694-60352277	K562	blood:	n/a	n/a
36	SIX5	chr17:60352615-60353427	K562	blood:	n/a	n/a
37	SPI1	chr17:60353164-60353315	K562	blood:	n/a	chr17:60353264-60353277 chr17:60353266-60353275
38	SPI1	chr17:60353122-60353359	GM12878	blood:	n/a	chr17:60353264-60353277 chr17:60353266-60353275
39	SPI1	chr17:60353177-60353371	K562	blood:	n/a	chr17:60353264-60353277 chr17:60353266-60353275
40	SPI1	chr17:60354617-60354838	K562	blood:	n/a	n/a
41	SPI1	chr17:60354646-60354894	K562	blood:	n/a	n/a
42	TCF3	chr17:60352639-60352996	GM12878	blood:	n/a	n/a
43	TCF3	chr17:60353162-60353443	GM12878	blood:	n/a	n/a
44	TCF3	chr17:60353548-60353885	GM12878	blood:	n/a	chr17:60353799-60353808
45	USF1	chr17:60353126-60353363	HepG2	liver:	n/a	n/a
46	USF1	chr17:60352315-60352446	HepG2	liver:	n/a	n/a
47	USF1	chr17:60352493-60352628	HepG2	liver:	n/a	n/a
48	ZBTB33	chr17:60352364-60353436	K562	blood:	n/a	n/a
49	ZBTB33	chr17:60353106-60353692	K562	blood:	n/a	n/a
50	ZBTB33	chr17:60352419-60352747	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60354306-60354356	HCT-116	colon:	n/a
2	chr17:60353177-60353227	HCT-116	colon:	n/a
3	chr17:60353177-60353227	HMEC	breast:	n/a
4	chr17:60354306-60354356	HEK293	kidney:	embryo
5	chr17:60354306-60354356	GM12892	blood:	n/a
6	chr17:60353177-60353227	PFSK-1	brain:	n/a
7	chr17:60353177-60353227	NHBE	bronchial:	n/a
8	chr17:60353177-60353227	A549	lung:	n/a
9	chr17:60354306-60354356	K562	blood:	n/a
10	chr17:60354306-60354356	ECC-1	luminal epithelium:	n/a
11	chr17:60353177-60353227	T-47D	breast:	n/a
12	chr17:60353177-60353227	NT2-D1	testis:	n/a
13	chr17:60354306-60354356	BJ	skin:	n/a
14	chr17:60354306-60354356	HAEpiC	amniotic membrane:	n/a
15	chr17:60354306-60354356	Hela-S3	cervix:	n/a
16	chr17:60354306-60354356	HCF	heart:	n/a
17	chr17:60353177-60353227	SAEC	small airway:	n/a
18	chr17:60354306-60354356	AG09309	skin:	n/a
19	chr17:60353177-60353227	PrEC	prostate:	n/a
20	chr17:60354306-60354356	ProgFib	skin:	n/a
21	chr17:60354306-60354356	AG10803	skin:	n/a
22	chr17:60354306-60354356	HEEpiC	esophagus:	n/a
23	chr17:60353177-60353227	K562	blood:	n/a
24	chr17:60354306-60354356	HepG2	liver:	n/a
25	chr17:60354306-60354356	GM12878	blood:	n/a
26	chr17:60354306-60354356	LNCaP	prostate:	n/a
27	chr17:60354306-60354356	HIPEpiC	eye:	n/a
28	chr17:60353177-60353227	NHDF-neo	bronchial:	n/a
29	chr17:60354306-60354356	AG04449	skin:	fetal
30	chr17:60354306-60354356	HRCEpiC	kidney:	n/a
31	chr17:60354306-60354356	Caco-2	colon:	n/a
32	chr17:60354306-60354356	PANC-1	pancreas:	n/a
33	chr17:60354306-60354356	AG04450	lung:	fetal
34	chr17:60353177-60353227	LNCaP	prostate:	n/a
35	chr17:60354306-60354356	HRPEpiC	eye:	n/a
36	chr17:60353177-60353227	IMR90	lung:	fetal
37	chr17:60354306-60354356	NB4	blood:	n/a
38	chr17:60354306-60354356	PrEC	prostate:	n/a
39	chr17:60354306-60354356	H1-hESC	embryonic stem cell:	embryo
40	chr17:60354306-60354356	SK-N-SH	brain:	n/a
41	chr17:60354306-60354356	A549	lung:	n/a
42	chr17:60354306-60354356	GM06990	blood:	n/a
43	chr17:60354306-60354356	GM12891	blood:	n/a
44	chr17:60354306-60354356	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:60353177-60353227	NB4	blood:	n/a
46	chr17:60353177-60353227	Jurkat	blood:	n/a
47	chr17:60354306-60354356	T-47D	breast:	n/a
48	chr17:60353177-60353227	HUVEC	blood vessel:	n/a
49	chr17:60353177-60353227	GM12891	blood:	n/a
50	chr17:60354306-60354356	SK-N-MC	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB3-3	chr17:60354001-60354372	expReg_chr17_10444_+
2	lnc-EFCAB3-4	chr17:60353068-60353173	NONHSAT055149
3	lnc-EFCAB3-4	chr17:60353621-60353920	NONHSAT055149

Variant related genes	Relation type
TBC1D3P2	TF binding region
TBC1D3P2	CpG island

Extended variants
information (count: 99 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536968853	chr17:60352171-60352172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62069124	chr17:60352190-60352191	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189510130	chr17:60352201-60352202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538988439	chr17:60352221-60352222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558910776	chr17:60352239-60352240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575692331	chr17:60352293-60352294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62069125	chr17:60352362-60352363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556902713	chr17:60352432-60352433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144533441	chr17:60352496-60352497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375133046	chr17:60352506-60352507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573472142	chr17:60352534-60352535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542526415	chr17:60352535-60352536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559179085	chr17:60352538-60352539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62069126	chr17:60352613-60352614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs528077783	chr17:60352645-60352646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141755565	chr17:60352659-60352660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564886875	chr17:60352714-60352715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370241820	chr17:60352730-60352731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550623405	chr17:60352741-60352742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs567875857	chr17:60352768-60352769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530276636	chr17:60352769-60352770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201209108	chr17:60352783-60352784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373765792	chr17:60352844-60352845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs180689770	chr17:60352845-60352846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544218593	chr17:60352848-60352849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558717256	chr17:60352854-60352855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562517192	chr17:60352874-60352875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569215664	chr17:60352875-60352876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs140239315	chr17:60352892-60352893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376412102	chr17:60352893-60352894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537973283	chr17:60352900-60352901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555010992	chr17:60352908-60352909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs71375837	chr17:60352929-60352930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542364991	chr17:60352955-60352956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111932133	chr17:60352961-60352962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552746374	chr17:60352988-60352989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62069127	chr17:60353006-60353007	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545270870	chr17:60353017-60353018	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs183775095	chr17:60353065-60353066	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs189632529	chr17:60353095-60353096	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs543982600	chr17:60353128-60353129	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs545303547	chr17:60353129-60353130	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs560918209	chr17:60353165-60353166	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs529811525	chr17:60353173-60353174	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs547258906	chr17:60353213-60353214	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs62069128	chr17:60353214-60353215	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139076490	chr17:60353229-60353230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552806152	chr17:60353241-60353242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs4968420	chr17:60353246-60353247	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538196599	chr17:60353264-60353265	Inactive region	TF binding region	1 gene(s)	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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60353000-60353200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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