Variant report

Variant	esv3509197
Chromosome Location	chr13:39379157-39383529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527857292	chr13:39379161-39379162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547988720	chr13:39379180-39379181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564592298	chr13:39379216-39379217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533690808	chr13:39379235-39379236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374747237	chr13:39379240-39379241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570063978	chr13:39379244-39379245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79004746	chr13:39379259-39379260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547671614	chr13:39379349-39379350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9603433	chr13:39379365-39379366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566206090	chr13:39379366-39379367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533720921	chr13:39379373-39379374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553942615	chr13:39379374-39379375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570608365	chr13:39379388-39379389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147214240	chr13:39379393-39379394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181642943	chr13:39379400-39379401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185351392	chr13:39379406-39379407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550185709	chr13:39379448-39379449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555013472	chr13:39379489-39379490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563182977	chr13:39379490-39379491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572125073	chr13:39379499-39379500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140324453	chr13:39379535-39379536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564708500	chr13:39379548-39379549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34997052	chr13:39379559-39379560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190279623	chr13:39379568-39379569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544120733	chr13:39379578-39379579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375802287	chr13:39379589-39379590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564006877	chr13:39379609-39379610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529284043	chr13:39379631-39379632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549420524	chr13:39379659-39379660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74894026	chr13:39379673-39379674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202077078	chr13:39379725-39379726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551629432	chr13:39379754-39379755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570614389	chr13:39379759-39379760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569980338	chr13:39379950-39379951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182409842	chr13:39379955-39379956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545521149	chr13:39379992-39379993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114470807	chr13:39379997-39379998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539709715	chr13:39380140-39380141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569633685	chr13:39380168-39380169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535046211	chr13:39380181-39380182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79851479	chr13:39380212-39380213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9576615	chr13:39380229-39380230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372721966	chr13:39380288-39380289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185801345	chr13:39380333-39380334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552406351	chr13:39380341-39380342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189822348	chr13:39380367-39380368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557610708	chr13:39380387-39380388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578113313	chr13:39380411-39380412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544058723	chr13:39380435-39380436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566225690	chr13:39380447-39380448	Weak transcription Enhancers	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:36 , 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	chr13:39377000-39379200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:39377000-39380000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:39377400-39379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:39377400-39379600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:39377400-39379600	Enhancers	Brain Hippocampus Middle	brain
9	chr13:39377400-39379600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr13:39377400-39379800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:39377400-39379800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:39377600-39379200	Enhancers	Brain Substantia Nigra	brain
13	chr13:39377600-39379600	Enhancers	Brain Angular Gyrus	brain
14	chr13:39377600-39380400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:39377800-39380400	Enhancers	HMEC	breast
16	chr13:39378200-39379400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:39378200-39380400	Enhancers	NHEK	skin
18	chr13:39378400-39379600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:39378400-39379600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:39378400-39380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:39378800-39379400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:39378800-39379400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:39378800-39379600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:39379000-39379200	Enhancers	Brain Germinal Matrix	brain
25	chr13:39379000-39379400	Enhancers	Brain Anterior Caudate	brain
26	chr13:39379000-39380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:39379000-39380600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:39379200-39380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:39379600-39380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:39379800-39381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:39380400-39380600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:39380400-39383400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:39380600-39380800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:39380600-39382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:39382200-39383400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:39383400-39384400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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