Variant report

Variant	nsv518074
Chromosome Location	chr13:51685789-51690384
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	chr13:51689400-51689550	MCF-7	breast:	n/a	n/a
2	CTCF	chr13:51689466-51689540	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr13:51689424-51689555	MCF-7	breast:	n/a	n/a
4	CTCF	chr13:51689429-51689592	MCF-7	breast:	n/a	n/a
5	CTCF	chr13:51689400-51689550	GM12870	blood:	n/a	n/a
6	CTCF	chr13:51686220-51686370	GM06990	blood:	n/a	n/a
7	CTCF	chr13:51689400-51689550	HepG2	liver:	n/a	n/a
8	CTCF	chr13:51689423-51689584	MCF-7	breast:	n/a	n/a
9	CTCF	chr13:51689416-51689515	K562	blood:	n/a	n/a
10	CTCF	chr13:51689439-51689489	HepG2	liver:	n/a	n/a
11	CTCF	chr13:51689448-51689556	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:51689408-51689567	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:51689452-51689547	A549	lung:	n/a	n/a
14	CTCF	chr13:51689320-51689470	GM06990	blood:	n/a	n/a
15	CTCF	chr13:51689438-51689544	Hela-S3	cervix:	n/a	n/a
16	FOS	chr13:51686980-51687232	MCF10A-Er-Src	breast:	n/a	chr13:51687065-51687072
17	FOS	chr13:51686984-51687276	MCF10A-Er-Src	breast:	n/a	chr13:51687065-51687072
18	FOS	chr13:51686978-51687247	MCF10A-Er-Src	breast:	n/a	chr13:51687065-51687072
19	POLR2A	chr13:51689499-51689602	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr13:51686696-51686708	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr13:51687076-51687276	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr13:51686981-51687176	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51689105..51690749-chr13:51693667..51695208,2	K562	blood:

Variant related genes	Relation type
LINC00371	TF binding region

Extended variants
information (count: 209 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4942951	chr13:51685789-51685790	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs140961678	chr13:51685824-51685825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77228466	chr13:51685855-51685856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75736726	chr13:51685892-51685893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528052060	chr13:51685906-51685907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554817659	chr13:51685922-51685923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574762514	chr13:51685940-51685941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375315662	chr13:51685981-51685982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544108347	chr13:51686001-51686002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5803552	chr13:51686025-51686026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33942401	chr13:51686026-51686027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5803553	chr13:51686027-51686028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200020115	chr13:51686028-51686029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562300805	chr13:51686029-51686030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576037331	chr13:51686038-51686039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544771703	chr13:51686054-51686055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565010440	chr13:51686058-51686059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568401464	chr13:51686086-51686087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537277990	chr13:51686108-51686109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs959952	chr13:51686109-51686110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144828806	chr13:51686112-51686113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570898710	chr13:51686115-51686116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529977764	chr13:51686154-51686155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs957434	chr13:51686166-51686167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs370627987	chr13:51686225-51686226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569945535	chr13:51686278-51686279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs570647652	chr13:51686344-51686345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77205065	chr13:51686420-51686421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553146078	chr13:51686427-51686428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34078300	chr13:51686464-51686465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552373711	chr13:51686494-51686495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61956841	chr13:51686509-51686510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74085532	chr13:51686532-51686533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190369789	chr13:51686582-51686583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542209887	chr13:51686588-51686589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572670322	chr13:51686616-51686617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554707092	chr13:51686649-51686650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183320302	chr13:51686686-51686687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148322551	chr13:51686693-51686694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537343393	chr13:51686740-51686741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556852575	chr13:51686741-51686742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116249204	chr13:51686751-51686752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554936710	chr13:51686847-51686848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575935559	chr13:51686873-51686874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76510977	chr13:51686877-51686878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377266718	chr13:51686888-51686889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78455004	chr13:51686890-51686891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75966143	chr13:51686891-51686892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76354922	chr13:51686892-51686893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188255690	chr13:51686898-51686899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51672600-51687200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:51672800-51692400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:51676200-51695200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:51685200-51691000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:51686000-51693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:51687200-51687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:51687400-51687600	Bivalent Enhancer	HSMMtube	muscle
8	chr13:51690000-51697000	Weak transcription	H1 Cell Line	embryonic stem cell

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