Variant report

Variant	nsv962372
Chromosome Location	chr17:15672546-15684234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15672440-15672590	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr17:15677202-15677291	GM20000	blood:	n/a	n/a
3	CTCF	chr17:15682280-15682430	GM12870	blood:	n/a	n/a
4	CTCF	chr17:15677252-15677352	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr17:15672440-15672590	HFF-Myc	foreskin:	n/a	n/a
6	KAP1	chr17:15682334-15682836	HEK293	kidney:	n/a	n/a
7	MAFK	chr17:15676410-15676618	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:15672443-15672736	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr17:15680298-15680312	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:15672399-15672805	SK-N-SH	brain:	n/a	n/a
11	REST	chr17:15672151-15672923	SK-N-SH	brain:	n/a	n/a
12	SETDB1	chr17:15682463-15682954	U2OS	brain:	n/a	n/a
13	SIN3AK20	chr17:15672478-15672767	SK-N-SH	brain:	n/a	n/a
14	STAT3	chr17:15680681-15680881	MCF10A-Er-Src	breast:	n/a	chr17:15680786-15680797
15	STAT3	chr17:15680655-15680855	MCF10A-Er-Src	breast:	n/a	chr17:15680786-15680797
16	USF2	chr17:15679068-15679212	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr17:15682511-15682705	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15683060-15683110	ovcar-3	ovarian:	n/a
2	chr17:15683060-15683110	HEK293	kidney:	embryo
3	chr17:15683060-15683110	NB4	blood:	n/a
4	chr17:15683060-15683110	PrEC	prostate:	n/a
5	chr17:15683060-15683110	H1-hESC	embryonic stem cell:	embryo
6	chr17:15683060-15683110	RPTEC	kidney:	n/a
7	chr17:15683060-15683110	SK-N-MC	brain:	n/a
8	chr17:15683060-15683110	MCF-7	breast:	n/a
9	chr17:15683060-15683110	PFSK-1	brain:	n/a
10	chr17:15683060-15683110	LNCaP	prostate:	n/a
11	chr17:15683060-15683110	HCF	heart:	n/a
12	chr17:15683060-15683110	HNPCEpiC	eye:	n/a
13	chr17:15683060-15683110	Caco-2	colon:	n/a
14	chr17:15683060-15683110	AoSMC	blood vessel:	n/a
15	chr17:15683060-15683110	MCF10A-Er-Src	breast:	n/a
16	chr17:15683060-15683110	HCT-116	colon:	n/a
17	chr17:15683060-15683110	HRPEpiC	eye:	n/a
18	chr17:15683060-15683110	Jurkat	blood:	n/a
19	chr17:15683060-15683110	HL-60	blood:	n/a
20	chr17:15683060-15683110	AG04449	skin:	fetal
21	chr17:15683060-15683110	CMK	blood:	n/a
22	chr17:15683060-15683110	HEEpiC	esophagus:	n/a
23	chr17:15683060-15683110	A549	lung:	n/a
24	chr17:15683060-15683110	SK-N-SH_RA	brain:	n/a
25	chr17:15683060-15683110	Hepatocyte	liver:	n/a
26	chr17:15683060-15683110	U87	brain:	n/a
27	chr17:15683060-15683110	NT2-D1	testis:	n/a
28	chr17:15683060-15683110	SAEC	small airway:	n/a
29	chr17:15683060-15683110	BJ	skin:	n/a
30	chr17:15683060-15683110	ProgFib	skin:	n/a
31	chr17:15683060-15683110	SKMC	muscle:	n/a
32	chr17:15683060-15683110	ECC-1	luminal epithelium:	n/a
33	chr17:15683060-15683110	HPAEpiC	pulmonary alveolar:	n/a
34	chr17:15683060-15683110	K562	blood:	n/a
35	chr17:15683060-15683110	GM19239	blood:	n/a
36	chr17:15683060-15683110	NHDF-neo	bronchial:	n/a
37	chr17:15683060-15683110	AG04450	lung:	fetal
38	chr17:15683060-15683110	GM06990	blood:	n/a
39	chr17:15683060-15683110	NHBE	bronchial:	n/a
40	chr17:15683060-15683110	HUVEC	blood vessel:	n/a
41	chr17:15683060-15683110	HepG2	liver:	n/a
42	chr17:15683060-15683110	HIPEpiC	eye:	n/a
43	chr17:15683060-15683110	AG09309	skin:	n/a
44	chr17:15683060-15683110	PANC-1	pancreas:	n/a
45	chr17:15683060-15683110	HCM	heart:	n/a
46	chr17:15683060-15683110	Hela-S3	cervix:	n/a
47	chr17:15683060-15683110	HMEC	breast:	n/a
48	chr17:15683060-15683110	HRCEpiC	kidney:	n/a
49	chr17:15683060-15683110	HRE	kidney:	n/a
50	chr17:15683060-15683110	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
ZSWIM5P1	TF binding region
RNA5SP436	TF binding region
IL6STP1	TF binding region
ZSWIM5P1	CpG island
RNA5SP436	CpG island
IL6STP1	CpG island

Extended variants
information (count: 275 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533072	chr17:15672554-15672555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563308712	chr17:15672555-15672556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577418864	chr17:15672556-15672557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546519335	chr17:15672564-15672565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372486053	chr17:15672583-15672584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552919659	chr17:15672648-15672649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528683767	chr17:15672689-15672690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192049318	chr17:15672723-15672724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562014000	chr17:15672731-15672732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531050307	chr17:15672755-15672756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58216104	chr17:15672779-15672780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570826461	chr17:15672780-15672781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533199472	chr17:15672809-15672810	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs184494207	chr17:15672820-15672821	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs552043435	chr17:15672848-15672849	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs565672272	chr17:15672879-15672880	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs534485790	chr17:15672892-15672893	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs554769021	chr17:15672895-15672896	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs189475206	chr17:15672914-15672915	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs537158337	chr17:15672983-15672984	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs556827127	chr17:15672989-15672990	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs576901386	chr17:15673009-15673010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116732799	chr17:15673014-15673015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141338566	chr17:15673015-15673016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542409735	chr17:15673064-15673065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562319490	chr17:15673084-15673085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530864101	chr17:15673090-15673091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544687310	chr17:15673106-15673107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564461678	chr17:15673126-15673127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533138080	chr17:15673178-15673179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546617221	chr17:15673203-15673204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565610825	chr17:15673223-15673224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114387486	chr17:15673326-15673327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192975496	chr17:15673337-15673338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568244263	chr17:15673397-15673398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373265347	chr17:15673434-15673435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536890023	chr17:15673530-15673531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557004145	chr17:15673537-15673538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145397097	chr17:15673601-15673602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539414832	chr17:15673606-15673607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184159016	chr17:15673611-15673612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573540035	chr17:15673641-15673642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189555546	chr17:15673646-15673647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572591335	chr17:15673648-15673649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs660347	chr17:15673658-15673659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148005421	chr17:15673672-15673673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs659957	chr17:15673720-15673721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs659945	chr17:15673727-15673728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555831643	chr17:15673746-15673747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111865045	chr17:15673773-15673774	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15672000-15672800	Weak transcription	Fetal Muscle Leg	muscle
2	chr17:15672000-15673200	Enhancers	Fetal Muscle Trunk	muscle
3	chr17:15672600-15674200	Enhancers	Stomach Smooth Muscle	stomach
4	chr17:15672800-15673000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr17:15672800-15674000	Enhancers	Fetal Muscle Leg	muscle
6	chr17:15672800-15674400	Enhancers	Left Ventricle	heart
7	chr17:15672800-15674800	Enhancers	Fetal Heart	heart
8	chr17:15673200-15673600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:15673600-15674000	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:15674000-15674200	Enhancers	Fetal Stomach	stomach
11	chr17:15680600-15682400	Weak transcription	Aorta	Aorta
12	chr17:15682200-15682600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:15682400-15682600	ZNF genes & repeats	Aorta	Aorta
14	chr17:15682600-15686200	Weak transcription	Aorta	Aorta
15	chr17:15683400-15683600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:15683600-15685400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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