Variant report

Variant	nsv597994
Chromosome Location	chr5:45540850-45554440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:45551191-45551382	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr5:45550913-45551157	SH-SY5Y	brain:	n/a	n/a
3	KAP1	chr5:45544083-45544278	K562	blood:	n/a	n/a
4	POLR2A	chr5:45542672-45542817	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:45540825-45541025	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:45541571-45541613	MCF10A-Er-Src	breast:	n/a	n/a
7	SPI1	chr5:45548743-45548856	GM12878	blood:	n/a	n/a
8	SPI1	chr5:45548738-45548861	K562	blood:	n/a	n/a
9	STAT3	chr5:45547509-45547517	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:45553518-45553568	GM19239	blood:	n/a
2	chr5:45553518-45553568	NHBE	bronchial:	n/a
3	chr5:45553518-45553568	HMEC	breast:	n/a
4	chr5:45553518-45553568	Caco-2	colon:	n/a
5	chr5:45553518-45553568	NHDF-neo	bronchial:	n/a
6	chr5:45553518-45553568	PrEC	prostate:	n/a
7	chr5:45553518-45553568	GM12891	blood:	n/a
8	chr5:45553518-45553568	AG04450	lung:	fetal
9	chr5:45553518-45553568	T-47D	breast:	n/a
10	chr5:45553518-45553568	HepG2	liver:	n/a
11	chr5:45553518-45553568	SAEC	small airway:	n/a
12	chr5:45553518-45553568	HCT-116	colon:	n/a
13	chr5:45553518-45553568	NT2-D1	testis:	n/a
14	chr5:45553518-45553568	RPTEC	kidney:	n/a
15	chr5:45553518-45553568	HL-60	blood:	n/a
16	chr5:45553518-45553568	GM12878	blood:	n/a
17	chr5:45553518-45553568	K562	blood:	n/a
18	chr5:45553518-45553568	MCF10A-Er-Src	breast:	n/a
19	chr5:45553518-45553568	AG04449	skin:	fetal
20	chr5:45553518-45553568	IMR90	lung:	fetal
21	chr5:45553518-45553568	U87	brain:	n/a
22	chr5:45553518-45553568	Hepatocyte	liver:	n/a
23	chr5:45553518-45553568	Hela-S3	cervix:	n/a
24	chr5:45553518-45553568	AG09309	skin:	n/a
25	chr5:45553518-45553568	HEK293	kidney:	embryo
26	chr5:45553518-45553568	HRPEpiC	eye:	n/a
27	chr5:45553518-45553568	HRE	kidney:	n/a
28	chr5:45553518-45553568	LNCaP	prostate:	n/a
29	chr5:45553518-45553568	SK-N-SH_RA	brain:	n/a
30	chr5:45553518-45553568	HAEpiC	amniotic membrane:	n/a
31	chr5:45553518-45553568	BE2_C	brain:	n/a
32	chr5:45553518-45553568	AoSMC	blood vessel:	n/a
33	chr5:45553518-45553568	HNPCEpiC	eye:	n/a
34	chr5:45553518-45553568	BJ	skin:	n/a
35	chr5:45553518-45553568	HCM	heart:	n/a
36	chr5:45553518-45553568	AG09319	gingival:	n/a
37	chr5:45553518-45553568	ovcar-3	ovarian:	n/a
38	chr5:45553518-45553568	PANC-1	pancreas:	n/a
39	chr5:45553518-45553568	HIPEpiC	eye:	n/a
40	chr5:45553518-45553568	HPAEpiC	pulmonary alveolar:	n/a
41	chr5:45553518-45553568	SK-N-MC	brain:	n/a
42	chr5:45553518-45553568	HUVEC	blood vessel:	n/a
43	chr5:45553518-45553568	HCF	heart:	n/a
44	chr5:45553518-45553568	ECC-1	luminal epithelium:	n/a
45	chr5:45553518-45553568	HEEpiC	esophagus:	n/a
46	chr5:45553518-45553568	MCF-7	breast:	n/a
47	chr5:45553518-45553568	CMK	blood:	n/a
48	chr5:45553518-45553568	GM06990	blood:	n/a
49	chr5:45553518-45553568	GM12892	blood:	n/a
50	chr5:45553518-45553568	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:66571588..66572090-chr5:45541388..45542303,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250422	TF binding region
ENSG00000250422	CpG island

Extended variants
information (count: 146 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191085432	chr5:45541203-45541204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562757136	chr5:45541247-45541248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183795007	chr5:45541254-45541255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148178239	chr5:45541265-45541266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575565269	chr5:45541279-45541280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376596516	chr5:45541281-45541282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568146337	chr5:45541284-45541285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551262439	chr5:45541291-45541292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533765702	chr5:45541300-45541301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547054679	chr5:45541308-45541309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367945197	chr5:45541344-45541345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141937742	chr5:45541419-45541420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150250638	chr5:45541440-45541441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188335886	chr5:45541452-45541453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72762067	chr5:45541457-45541458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531800812	chr5:45541504-45541505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192680542	chr5:45541599-45541600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550024056	chr5:45541604-45541605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137964392	chr5:45541611-45541612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568576445	chr5:45541625-45541626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143534068	chr5:45541635-45541636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184925397	chr5:45541656-45541657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147127767	chr5:45541700-45541701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533362786	chr5:45541707-45541708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564533463	chr5:45541755-45541756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78576575	chr5:45541779-45541780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547860567	chr5:45541820-45541821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578149104	chr5:45541830-45541831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369127728	chr5:45541833-45541834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187720391	chr5:45541840-45541841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529322490	chr5:45541856-45541857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548166526	chr5:45542055-45542056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562031844	chr5:45542111-45542112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115805153	chr5:45542166-45542167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78530664	chr5:45542189-45542190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191491655	chr5:45542225-45542226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140290257	chr5:45542246-45542247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142718741	chr5:45542258-45542259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549879565	chr5:45542326-45542327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569525880	chr5:45542393-45542394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530918256	chr5:45542511-45542512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572598277	chr5:45542522-45542523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184205856	chr5:45542556-45542557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374566191	chr5:45542600-45542601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189961337	chr5:45542602-45542603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572788950	chr5:45542739-45542740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374658301	chr5:45542766-45542767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377435266	chr5:45542800-45542801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570177334	chr5:45542819-45542820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78918554	chr5:45542837-45542838	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45541200-45543400	Enhancers	Fetal Heart	heart
2	chr5:45551000-45551200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:45551600-45553000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:45552400-45552600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:45552800-45553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:45553000-45555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:45553000-45555800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:45553200-45553400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:45553200-45553400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:45553200-45554400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:45553400-45554400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:45553400-45554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:45554400-45554800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:45554400-45555000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:45554400-45555400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:45554400-45555600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:45554400-45555800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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