Variant report

Variant	nsv968174
Chromosome Location	chr5:53154144-53156252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr5:53154988-53155129	HepG2	liver:	n/a	chr5:53155080-53155093
2	JUND	chr5:53154998-53155149	K562	blood:	n/a	n/a
3	JUND	chr5:53154948-53155248	HepG2	liver:	n/a	n/a
4	MAFK	chr5:53154719-53154780	HepG2	liver:	n/a	n/a
5	MYC	chr5:53156047-53156077	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:53155989-53156111	MCF-7	breast:	n/a	n/a
7	ZBTB33	chr5:53155014-53155338	K562	blood:	n/a	n/a
8	ZBTB33	chr5:53156056-53156387	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:53155508-53155558	ECC-1	luminal epithelium:	n/a
2	chr5:53155508-53155558	HCF	heart:	n/a
3	chr5:53155508-53155558	AG10803	skin:	n/a
4	chr5:53155508-53155558	HMEC	breast:	n/a
5	chr5:53155508-53155558	HCPEpiC	choroid plexus:	n/a
6	chr5:53155508-53155558	U87	brain:	n/a
7	chr5:53155508-53155558	PrEC	prostate:	n/a
8	chr5:53155508-53155558	ProgFib	skin:	n/a
9	chr5:53155508-53155558	PANC-1	pancreas:	n/a
10	chr5:53155508-53155558	Hela-S3	cervix:	n/a
11	chr5:53155508-53155558	GM19239	blood:	n/a
12	chr5:53155508-53155558	HRCEpiC	kidney:	n/a
13	chr5:53155508-53155558	GM12891	blood:	n/a
14	chr5:53155508-53155558	LNCaP	prostate:	n/a
15	chr5:53155508-53155558	NB4	blood:	n/a
16	chr5:53155508-53155558	HNPCEpiC	eye:	n/a
17	chr5:53155508-53155558	HCM	heart:	n/a
18	chr5:53155508-53155558	HIPEpiC	eye:	n/a
19	chr5:53155508-53155558	ovcar-3	ovarian:	n/a
20	chr5:53155508-53155558	RPTEC	kidney:	n/a
21	chr5:53155508-53155558	HepG2	liver:	n/a
22	chr5:53155508-53155558	BE2_C	brain:	n/a
23	chr5:53155508-53155558	IMR90	lung:	fetal
24	chr5:53155508-53155558	HEEpiC	esophagus:	n/a
25	chr5:53155508-53155558	AG09309	skin:	n/a
26	chr5:53155508-53155558	AG09319	gingival:	n/a
27	chr5:53155508-53155558	AG04450	lung:	fetal
28	chr5:53155508-53155558	SK-N-SH_RA	brain:	n/a
29	chr5:53155508-53155558	AoSMC	blood vessel:	n/a
30	chr5:53155508-53155558	GM12892	blood:	n/a
31	chr5:53155508-53155558	T-47D	breast:	n/a
32	chr5:53155508-53155558	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:53155508-53155558	MCF10A-Er-Src	breast:	n/a
34	chr5:53155508-53155558	NHBE	bronchial:	n/a
35	chr5:53155508-53155558	HL-60	blood:	n/a
36	chr5:53155508-53155558	NHDF-neo	bronchial:	n/a
37	chr5:53155508-53155558	A549	lung:	n/a
38	chr5:53155508-53155558	MCF-7	breast:	n/a
39	chr5:53155508-53155558	HAEpiC	amniotic membrane:	n/a
40	chr5:53155508-53155558	SAEC	small airway:	n/a
41	chr5:53155508-53155558	GM06990	blood:	n/a
42	chr5:53155508-53155558	NT2-D1	testis:	n/a
43	chr5:53155508-53155558	SK-N-MC	brain:	n/a
44	chr5:53155508-53155558	HEK293	kidney:	embryo
45	chr5:53155508-53155558	NH-A	brain:	n/a
46	chr5:53155508-53155558	PFSK-1	brain:	n/a
47	chr5:53155508-53155558	HRPEpiC	eye:	n/a
48	chr5:53155508-53155558	AG04449	skin:	fetal
49	chr5:53155508-53155558	BJ	skin:	n/a
50	chr5:53155508-53155558	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
ASS1P9	TF binding region
ASS1P9	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544632856	chr5:53154738-53154739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs566073232	chr5:53154952-53154953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536950756	chr5:53154959-53154960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555205589	chr5:53154960-53154961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs271251	chr5:53154963-53154964	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377497795	chr5:53154992-53154993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113559676	chr5:53154993-53154994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs183415268	chr5:53156203-53156204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541324196	chr5:53156211-53156212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553251028	chr5:53156218-53156219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187495740	chr5:53156237-53156238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542324657	chr5:53156241-53156242	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53156200-53156400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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