Variant report

Variant	nsv977167
Chromosome Location	chr13:37498073-37499916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:37498376-37498389	Fibrobl	skin:	n/a	n/a
2	POLR2A	chr13:37498370-37498450	Gliobla	brain:	n/a	n/a
3	SPI1	chr13:37499856-37500081	GM12878	blood:	n/a	n/a
4	SPI1	chr13:37499756-37500031	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37492680..37494587-chr13:37496593..37498189,2	K562	blood:

Variant related genes	Relation type
SMAD9	TF binding region
ENSG00000120693	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577651031	chr13:37498114-37498115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187076795	chr13:37498127-37498128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375919721	chr13:37498138-37498139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112187209	chr13:37498185-37498186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538956406	chr13:37498226-37498227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557187049	chr13:37498227-37498228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532728883	chr13:37498228-37498229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73535800	chr13:37498235-37498236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536428337	chr13:37498247-37498248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151076406	chr13:37498283-37498284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535007061	chr13:37498305-37498306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374269857	chr13:37498306-37498307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573278027	chr13:37498310-37498311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540687214	chr13:37498314-37498315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112921497	chr13:37498378-37498379	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191551342	chr13:37498383-37498384	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550835098	chr13:37498389-37498390	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs17054718	chr13:37498410-37498411	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369580227	chr13:37498422-37498423	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542417003	chr13:37498436-37498437	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562760684	chr13:37498454-37498455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs515397	chr13:37498469-37498470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs541639201	chr13:37498533-37498534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531404736	chr13:37498569-37498570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527414071	chr13:37498589-37498590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552209213	chr13:37498637-37498638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570117450	chr13:37498645-37498646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34525095	chr13:37498659-37498660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550904462	chr13:37498663-37498664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569185277	chr13:37498666-37498667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553472098	chr13:37498690-37498691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536923280	chr13:37498711-37498712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548512941	chr13:37498714-37498715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567013380	chr13:37498723-37498724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534034476	chr13:37498747-37498748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564856608	chr13:37498749-37498750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184424331	chr13:37498766-37498767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577349622	chr13:37498767-37498768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138793127	chr13:37498781-37498782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556528274	chr13:37498791-37498792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574667572	chr13:37498801-37498802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9576139	chr13:37498944-37498945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142917136	chr13:37498973-37498974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572159866	chr13:37499012-37499013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150363945	chr13:37499059-37499060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199762501	chr13:37499078-37499079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398117208	chr13:37499090-37499091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545627068	chr13:37499109-37499110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137916314	chr13:37499115-37499116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1547676	chr13:37499143-37499144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37495600-37500000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:37496800-37498400	Weak transcription	HepG2	liver
3	chr13:37498200-37498400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:37498400-37498800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:37498400-37498800	Enhancers	HepG2	liver
6	chr13:37498800-37499800	Weak transcription	HepG2	liver
7	chr13:37499800-37500000	Enhancers	HepG2	liver

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