Variant report

Variant	nsv1033
Chromosome Location	chr13:49241446-49250564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49240366..49242001-chr13:49295231..49296935,2	MCF-7	breast:

Extended variants
information (count: 371 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35532841	chr13:49241465-49241466	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112630147	chr13:49241499-49241500	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566992352	chr13:49241500-49241501	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371388433	chr13:49241517-49241518	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537450157	chr13:49241522-49241523	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549324416	chr13:49241580-49241581	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs570900345	chr13:49241591-49241592	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538602970	chr13:49241622-49241623	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571379589	chr13:49241629-49241630	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1323556	chr13:49241654-49241655	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572162684	chr13:49241659-49241660	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547102067	chr13:49241668-49241669	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139186958	chr13:49241671-49241672	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574144014	chr13:49241672-49241673	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190783235	chr13:49241673-49241674	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76079164	chr13:49241689-49241690	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367633909	chr13:49241702-49241703	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578057250	chr13:49241753-49241754	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7329374	chr13:49241782-49241783	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113683427	chr13:49241834-49241835	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527899298	chr13:49241857-49241858	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142610917	chr13:49241881-49241882	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115673055	chr13:49241944-49241945	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75616615	chr13:49241952-49241953	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549460945	chr13:49242027-49242028	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145992930	chr13:49242033-49242034	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559104697	chr13:49242041-49242042	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139650459	chr13:49242080-49242081	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547397083	chr13:49242113-49242114	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565920209	chr13:49242142-49242143	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9595958	chr13:49242249-49242250	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111813833	chr13:49242278-49242279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145593687	chr13:49242281-49242282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188443762	chr13:49242290-49242291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148510887	chr13:49242295-49242296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577974630	chr13:49242362-49242363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535180651	chr13:49242370-49242371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78006644	chr13:49242380-49242381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550608104	chr13:49242381-49242382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57791346	chr13:49242382-49242383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570543005	chr13:49242393-49242394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572656427	chr13:49242509-49242510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542941005	chr13:49242552-49242553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80061656	chr13:49242554-49242555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574857149	chr13:49242590-49242591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7335898	chr13:49242606-49242607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145345046	chr13:49242622-49242623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535675161	chr13:49242655-49242656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564610472	chr13:49242685-49242686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191136269	chr13:49242711-49242712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
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
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
Chronic lymphocytic leukemia	21670202	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
Congenital anomalies of the kidney and urinary tract	20467480	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
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49236600-49241600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:49239800-49241800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:49240200-49241800	ZNF genes & repeats	Dnd41	blood
4	chr13:49240800-49244000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:49241000-49242200	Enhancers	Liver	Liver
6	chr13:49241400-49241800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:49241400-49241800	Enhancers	Placenta	Placenta
8	chr13:49241400-49242200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49241600-49241800	ZNF genes & repeats	Aorta	Aorta
10	chr13:49241600-49242600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:49241800-49242600	Enhancers	Dnd41	blood
12	chr13:49242000-49242400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr13:49242600-49248200	Weak transcription	Dnd41	blood
14	chr13:49242600-49251000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:49247600-49249200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49248200-49252800	Enhancers	Dnd41	blood
17	chr13:49248400-49250200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:49248600-49248800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr13:49248600-49250400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:49249200-49249400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:49249600-49250800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:49249800-49250200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:49250200-49250800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:49250200-49251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:49250400-49251200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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