Variant report

Variant	nsv597321
Chromosome Location	chr5:17351275-17352859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr5:17352535-17352691	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr5:17352504-17352852	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr5:17352185-17352943	H1-neurons	neurons:	n/a	n/a
4	REST	chr5:17351965-17353092	H1-neurons	neurons:	n/a	n/a
5	SPI1	chr5:17351934-17352271	HL-60	blood:	n/a	n/a
6	WRNIP1	chr5:17351214-17351286	GM12878	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	NT2-D1	testis:	n/a
2	chr5:17352463-17352513	AG09319	gingival:	n/a
3	chr5:17351261-17351311	GM06990	blood:	n/a
4	chr5:17352463-17352513	HCT-116	colon:	n/a
5	chr5:17351261-17351311	HMEC	breast:	n/a
6	chr5:17351261-17351311	ECC-1	luminal epithelium:	n/a
7	chr5:17351261-17351311	HCT-116	colon:	n/a
8	chr5:17352463-17352513	HepG2	liver:	n/a
9	chr5:17352463-17352513	NHBE	bronchial:	n/a
10	chr5:17352463-17352513	AG04450	lung:	fetal
11	chr5:17352463-17352513	SK-N-SH_RA	brain:	n/a
12	chr5:17351261-17351311	Hepatocyte	liver:	n/a
13	chr5:17352463-17352513	GM12878	blood:	n/a
14	chr5:17352463-17352513	Jurkat	blood:	n/a
15	chr5:17351261-17351311	T-47D	breast:	n/a
16	chr5:17351261-17351311	HCPEpiC	choroid plexus:	n/a
17	chr5:17351261-17351311	HEK293	kidney:	embryo
18	chr5:17351261-17351311	NH-A	brain:	n/a
19	chr5:17351261-17351311	GM12878	blood:	n/a
20	chr5:17352463-17352513	Caco-2	colon:	n/a
21	chr5:17351261-17351311	AG10803	skin:	n/a
22	chr5:17352463-17352513	NHDF-neo	bronchial:	n/a
23	chr5:17352463-17352513	ECC-1	luminal epithelium:	n/a
24	chr5:17351261-17351311	MCF10A-Er-Src	breast:	n/a
25	chr5:17351261-17351311	SK-N-SH_RA	brain:	n/a
26	chr5:17351261-17351311	SK-N-SH	brain:	n/a
27	chr5:17352463-17352513	SK-N-MC	brain:	n/a
28	chr5:17352463-17352513	SAEC	small airway:	n/a
29	chr5:17352463-17352513	IMR90	lung:	fetal
30	chr5:17351261-17351311	BE2_C	brain:	n/a
31	chr5:17351261-17351311	HRPEpiC	eye:	n/a
32	chr5:17351261-17351311	HEEpiC	esophagus:	n/a
33	chr5:17351261-17351311	GM12892	blood:	n/a
34	chr5:17351261-17351311	HCM	heart:	n/a
35	chr5:17352463-17352513	RPTEC	kidney:	n/a
36	chr5:17351261-17351311	HIPEpiC	eye:	n/a
37	chr5:17352463-17352513	HIPEpiC	eye:	n/a
38	chr5:17351261-17351311	HAEpiC	amniotic membrane:	n/a
39	chr5:17351261-17351311	PrEC	prostate:	n/a
40	chr5:17351261-17351311	NHDF-neo	bronchial:	n/a
41	chr5:17352463-17352513	LNCaP	prostate:	n/a
42	chr5:17352463-17352513	GM19239	blood:	n/a
43	chr5:17352463-17352513	Hela-S3	cervix:	n/a
44	chr5:17352463-17352513	HL-60	blood:	n/a
45	chr5:17352463-17352513	NH-A	brain:	n/a
46	chr5:17351261-17351311	CMK	blood:	n/a
47	chr5:17351261-17351311	AoSMC	blood vessel:	n/a
48	chr5:17351261-17351311	NHBE	bronchial:	n/a
49	chr5:17351261-17351311	AG04449	skin:	fetal
50	chr5:17351261-17351311	Hela-S3	cervix:	n/a

(count:1 , 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:

No data

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

Extended variants
information (count: 64 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2650944	chr5:17351275-17351276	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534232284	chr5:17351282-17351283	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs144345701	chr5:17351288-17351289	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs73054812	chr5:17351292-17351293	Weak transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537959083	chr5:17351313-17351314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548339797	chr5:17351319-17351320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2650943	chr5:17351339-17351340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574036241	chr5:17351344-17351345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2652645	chr5:17351377-17351378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577504603	chr5:17351379-17351380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79712325	chr5:17351422-17351423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112049534	chr5:17351535-17351536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558587609	chr5:17351565-17351566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116795171	chr5:17351576-17351577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544348005	chr5:17351596-17351597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560995744	chr5:17351675-17351676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372263219	chr5:17351682-17351683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148762486	chr5:17351725-17351726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2650942	chr5:17351729-17351730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2650941	chr5:17351738-17351739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141470037	chr5:17351741-17351742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572058926	chr5:17351743-17351744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552112601	chr5:17351807-17351808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146319899	chr5:17351831-17351832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114593392	chr5:17351841-17351842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2652644	chr5:17351849-17351850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139608755	chr5:17351850-17351851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2652643	chr5:17351860-17351861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548015089	chr5:17351892-17351893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571007213	chr5:17351908-17351909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186325149	chr5:17351920-17351921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531170119	chr5:17351922-17351923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558561924	chr5:17351981-17351982	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs144233483	chr5:17352062-17352063	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537877841	chr5:17352065-17352066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2134242	chr5:17352084-17352085	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563757018	chr5:17352089-17352090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191271758	chr5:17352193-17352194	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs60552981	chr5:17352194-17352195	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs577029633	chr5:17352205-17352206	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2134241	chr5:17352210-17352211	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77950480	chr5:17352249-17352250	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs531581897	chr5:17352259-17352260	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541859385	chr5:17352282-17352283	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562036801	chr5:17352331-17352332	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs527785787	chr5:17352364-17352365	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533603338	chr5:17352374-17352375	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547631709	chr5:17352397-17352398	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2173968	chr5:17352407-17352408	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533597838	chr5:17352442-17352443	Weak transcription Enhancers	TF binding region	1 gene(s)	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:16 , 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	chr5:17351000-17353000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:17351200-17351400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:17351200-17351400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:17351200-17353000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:17351200-17353000	Enhancers	Fetal Brain Male	brain
7	chr5:17351400-17352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:17351400-17354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:17352000-17352400	Enhancers	Fetal Brain Female	brain
10	chr5:17352000-17352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:17352000-17352800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:17352000-17353000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:17352400-17352800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:17352400-17353000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:17352600-17353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:17352800-17355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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