Variant report

Variant	nsv819985
Chromosome Location	chr13:39379522-39386801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 271 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140324453	chr13:39379535-39379536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564708500	chr13:39379548-39379549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34997052	chr13:39379559-39379560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190279623	chr13:39379568-39379569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544120733	chr13:39379578-39379579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375802287	chr13:39379589-39379590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564006877	chr13:39379609-39379610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529284043	chr13:39379631-39379632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549420524	chr13:39379659-39379660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74894026	chr13:39379673-39379674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202077078	chr13:39379725-39379726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551629432	chr13:39379754-39379755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570614389	chr13:39379759-39379760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569980338	chr13:39379950-39379951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182409842	chr13:39379955-39379956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545521149	chr13:39379992-39379993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114470807	chr13:39379997-39379998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539709715	chr13:39380140-39380141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569633685	chr13:39380168-39380169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535046211	chr13:39380181-39380182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79851479	chr13:39380212-39380213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9576615	chr13:39380229-39380230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372721966	chr13:39380288-39380289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185801345	chr13:39380333-39380334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552406351	chr13:39380341-39380342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189822348	chr13:39380367-39380368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557610708	chr13:39380387-39380388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578113313	chr13:39380411-39380412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544058723	chr13:39380435-39380436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566225690	chr13:39380447-39380448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534892450	chr13:39380537-39380538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554788938	chr13:39380540-39380541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563943852	chr13:39380563-39380564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568403806	chr13:39380564-39380565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116213887	chr13:39380573-39380574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556101968	chr13:39380603-39380604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78250116	chr13:39380630-39380631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575968354	chr13:39380671-39380672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9603434	chr13:39380707-39380708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185626247	chr13:39380723-39380724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202006320	chr13:39380750-39380751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377376174	chr13:39380751-39380752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190373611	chr13:39380885-39380886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571676566	chr13:39380908-39380909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530467901	chr13:39381037-39381038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9576616	chr13:39381045-39381046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569576056	chr13:39381110-39381111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535368385	chr13:39381148-39381149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549056976	chr13:39381172-39381173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146433791	chr13:39381177-39381178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39376000-39388800	Weak transcription	Gastric	stomach
2	chr13:39376600-39379600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr13:39376600-39380600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:39377000-39380000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:39377400-39379600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:39377400-39379600	Enhancers	Brain Hippocampus Middle	brain
7	chr13:39377400-39379600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr13:39377400-39379800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:39377400-39379800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:39377600-39379600	Enhancers	Brain Angular Gyrus	brain
11	chr13:39377600-39380400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:39377800-39380400	Enhancers	HMEC	breast
13	chr13:39378200-39380400	Enhancers	NHEK	skin
14	chr13:39378400-39379600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:39378400-39379600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:39378400-39380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:39378800-39379600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:39379000-39380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:39379000-39380600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:39379200-39380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:39379600-39380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:39379800-39381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:39380400-39380600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:39380400-39383400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:39380600-39380800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:39380600-39382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:39382200-39383400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:39383400-39384400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:39384400-39384800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:39385400-39387800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:39386200-39387000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:39386800-39390000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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