Variant report

Variant	nsv597316
Chromosome Location	chr5:17347706-17353999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:17353871-17354044	GM12878	blood:	n/a	n/a
2	BCL11A	chr5:17352535-17352691	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:17349354-17349424	A549	lung:	n/a	n/a
4	CEBPB	chr5:17353388-17353588	A549	lung:	n/a	n/a
5	CTCF	chr5:17347560-17347710	GM12873	blood:	n/a	n/a
6	CTCF	chr5:17347620-17347770	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr5:17347580-17347730	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr5:17347600-17347750	GM12874	blood:	n/a	n/a
9	CTCF	chr5:17347620-17347770	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr5:17347620-17347770	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr5:17347717-17347771	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr5:17347580-17347730	A549	lung:	n/a	n/a
13	CTCF	chr5:17347582-17347773	K562	blood:	n/a	n/a
14	EP300	chr5:17352504-17352852	H1-hESC	embryonic stem cell:	n/a	n/a
15	GATA2	chr5:17353802-17354221	K562	blood:	n/a	n/a
16	HCFC1	chr5:17347561-17347845	K562	blood:	n/a	n/a
17	HEY1	chr5:17353758-17354777	K562	blood:	n/a	n/a
18	HEY1	chr5:17353803-17353988	HepG2	liver:	n/a	n/a
19	HEY1	chr5:17353756-17354227	HepG2	liver:	n/a	n/a
20	IRF4	chr5:17353792-17354328	GM12878	blood:	n/a	n/a
21	IRF4	chr5:17353911-17354417	GM12878	blood:	n/a	n/a
22	MAX	chr5:17348192-17348355	NB4	blood:	n/a	n/a
23	MAZ	chr5:17348369-17348371	Hela-S3	cervix:	n/a	n/a
24	PAX5	chr5:17353778-17354526	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:17349800-17349950	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr5:17353995-17354900	GM12892	blood:	n/a	n/a
27	POLR2A	chr5:17353729-17354695	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:17353811-17354807	GM12891	blood:	n/a	n/a
29	POLR2A	chr5:17353855-17354025	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:17353871-17354037	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:17348247-17348323	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:17353767-17354792	GM12891	blood:	n/a	n/a
33	POLR2A	chr5:17353692-17354737	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:17353763-17354905	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr5:17353811-17354507	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr5:17353788-17354037	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:17353761-17354800	GM12878	blood:	n/a	n/a
38	POLR2A	chr5:17353843-17354010	A549	lung:	n/a	n/a
39	POLR2A	chr5:17353844-17353989	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:17353814-17354425	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:17353940-17354750	GM12892	blood:	n/a	n/a
42	POU2F2	chr5:17353809-17354155	GM12878	blood:	n/a	n/a
43	RAD21	chr5:17347503-17347917	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr5:17347589-17347747	H1-hESC	embryonic stem cell:	n/a	n/a
45	REST	chr5:17351965-17353092	H1-neurons	neurons:	n/a	n/a
46	REST	chr5:17352185-17352943	H1-neurons	neurons:	n/a	n/a
47	SPI1	chr5:17353866-17354042	GM12878	blood:	n/a	n/a
48	SPI1	chr5:17351934-17352271	HL-60	blood:	n/a	n/a
49	STAT3	chr5:17353310-17353440	MCF10A-Er-Src	breast:	n/a	n/a
50	TAL1	chr5:17353899-17354096	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17352463-17352513	HEK293	kidney:	embryo
2	chr5:17351261-17351311	HEEpiC	esophagus:	n/a
3	chr5:17351261-17351311	HAEpiC	amniotic membrane:	n/a
4	chr5:17352463-17352513	GM12892	blood:	n/a
5	chr5:17352463-17352513	GM06990	blood:	n/a
6	chr5:17351261-17351311	ProgFib	skin:	n/a
7	chr5:17351261-17351311	PANC-1	pancreas:	n/a
8	chr5:17351261-17351311	NH-A	brain:	n/a
9	chr5:17352463-17352513	AG09319	gingival:	n/a
10	chr5:17351261-17351311	AG04449	skin:	fetal
11	chr5:17351261-17351311	SAEC	small airway:	n/a
12	chr5:17352463-17352513	NT2-D1	testis:	n/a
13	chr5:17352463-17352513	ovcar-3	ovarian:	n/a
14	chr5:17352463-17352513	NH-A	brain:	n/a
15	chr5:17351261-17351311	SK-N-SH	brain:	n/a
16	chr5:17352463-17352513	MCF10A-Er-Src	breast:	n/a
17	chr5:17352463-17352513	PANC-1	pancreas:	n/a
18	chr5:17351261-17351311	HL-60	blood:	n/a
19	chr5:17351261-17351311	Hela-S3	cervix:	n/a
20	chr5:17352463-17352513	SK-N-SH_RA	brain:	n/a
21	chr5:17351261-17351311	GM06990	blood:	n/a
22	chr5:17352463-17352513	HNPCEpiC	eye:	n/a
23	chr5:17352463-17352513	AG04449	skin:	fetal
24	chr5:17351261-17351311	MCF-7	breast:	n/a
25	chr5:17352463-17352513	AG10803	skin:	n/a
26	chr5:17352463-17352513	RPTEC	kidney:	n/a
27	chr5:17351261-17351311	HCF	heart:	n/a
28	chr5:17352463-17352513	HCT-116	colon:	n/a
29	chr5:17352463-17352513	HCF	heart:	n/a
30	chr5:17351261-17351311	HMEC	breast:	n/a
31	chr5:17352463-17352513	HRE	kidney:	n/a
32	chr5:17352463-17352513	SAEC	small airway:	n/a
33	chr5:17351261-17351311	HNPCEpiC	eye:	n/a
34	chr5:17351261-17351311	Caco-2	colon:	n/a
35	chr5:17351261-17351311	Jurkat	blood:	n/a
36	chr5:17352463-17352513	NHBE	bronchial:	n/a
37	chr5:17352463-17352513	HIPEpiC	eye:	n/a
38	chr5:17352463-17352513	A549	lung:	n/a
39	chr5:17352463-17352513	Jurkat	blood:	n/a
40	chr5:17351261-17351311	HRPEpiC	eye:	n/a
41	chr5:17352463-17352513	GM19239	blood:	n/a
42	chr5:17351261-17351311	IMR90	lung:	fetal
43	chr5:17351261-17351311	ECC-1	luminal epithelium:	n/a
44	chr5:17352463-17352513	ECC-1	luminal epithelium:	n/a
45	chr5:17351261-17351311	HCM	heart:	n/a
46	chr5:17351261-17351311	AG09309	skin:	n/a
47	chr5:17352463-17352513	SKMC	muscle:	n/a
48	chr5:17351261-17351311	HRE	kidney:	n/a
49	chr5:17352463-17352513	ProgFib	skin:	n/a
50	chr5:17351261-17351311	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17348620..17350126-chr5:17350951..17353449,2	MCF-7	breast:
2	chr5:17348620..17350126-chr5:17350951..17353449,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248223	TF binding region
ENSG00000248223	CpG island

Extended variants
information (count: 259 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:259 , 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	rs10866522	chr5:17347706-17347707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545059433	chr5:17347746-17347747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201325069	chr5:17347804-17347805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201308036	chr5:17347807-17347808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58840014	chr5:17347808-17347809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111593511	chr5:17347809-17347810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548738204	chr5:17347816-17347817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565881780	chr5:17347919-17347920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534545620	chr5:17347935-17347936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115991552	chr5:17347957-17347958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187168543	chr5:17347984-17347985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537439448	chr5:17347996-17347997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557394300	chr5:17348020-17348021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373867526	chr5:17348051-17348052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188433583	chr5:17348055-17348056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371734810	chr5:17348107-17348108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370090615	chr5:17348123-17348124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200906496	chr5:17348127-17348128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527279716	chr5:17348140-17348141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559660164	chr5:17348157-17348158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115328409	chr5:17348213-17348214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111444660	chr5:17348308-17348309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180905627	chr5:17348334-17348335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531116821	chr5:17348351-17348352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375089036	chr5:17348392-17348393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77447931	chr5:17348429-17348430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80140028	chr5:17348478-17348479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528929764	chr5:17348546-17348547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75641358	chr5:17348574-17348575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565672083	chr5:17348646-17348647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533405547	chr5:17348727-17348728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185114643	chr5:17348768-17348769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557146194	chr5:17348785-17348786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571472117	chr5:17348796-17348797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190321961	chr5:17348823-17348824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139806683	chr5:17348828-17348829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182934762	chr5:17348848-17348849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113424165	chr5:17348859-17348860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143494129	chr5:17348946-17348947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187096872	chr5:17349010-17349011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191572772	chr5:17349018-17349019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114124619	chr5:17349027-17349028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376740002	chr5:17349045-17349046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184219410	chr5:17349058-17349059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575501321	chr5:17349074-17349075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573232091	chr5:17349076-17349077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540265601	chr5:17349083-17349084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78195761	chr5:17349116-17349117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146767952	chr5:17349149-17349150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528844019	chr5:17349177-17349178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17344600-17358400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:17346600-17348400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:17347000-17347800	Enhancers	Placenta	Placenta
4	chr5:17347800-17348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:17351000-17353000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:17351200-17351400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:17351200-17351400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17351200-17353000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:17351200-17353000	Enhancers	Fetal Brain Male	brain
10	chr5:17351400-17352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:17351400-17354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:17352000-17352400	Enhancers	Fetal Brain Female	brain
13	chr5:17352000-17352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:17352000-17352800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:17352000-17353000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:17352400-17352800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:17352400-17353000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:17352600-17353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:17352800-17355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:17353000-17353400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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