Variant report

Variant	nsv900386
Chromosome Location	chr13:66636157-66672976
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	chr12:28240626..28241152-chr13:66662383..66662898,2	MCF-7	breast:

Extended variants
information (count: 702 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542796	chr13:66636157-66636158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151209552	chr13:66636177-66636178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555288643	chr13:66636178-66636179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61956724	chr13:66636200-66636201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533509534	chr13:66636207-66636208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185215600	chr13:66636210-66636211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577029885	chr13:66636218-66636219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115255717	chr13:66636221-66636222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs687772	chr13:66636233-66636234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183453498	chr13:66636240-66636241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541963278	chr13:66636252-66636253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187221300	chr13:66636290-66636291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527704719	chr13:66636318-66636319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140391117	chr13:66636328-66636329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564487865	chr13:66636329-66636330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540284	chr13:66636379-66636380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145602722	chr13:66636392-66636393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570302232	chr13:66636393-66636394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529468073	chr13:66636417-66636418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541688821	chr13:66636444-66636445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138803305	chr13:66636458-66636459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112109003	chr13:66636467-66636468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs193161558	chr13:66636486-66636487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111397547	chr13:66636492-66636493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553524715	chr13:66636502-66636503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182819558	chr13:66636503-66636504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111567522	chr13:66636534-66636535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111643156	chr13:66636537-66636538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556032489	chr13:66636587-66636588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531241827	chr13:66636596-66636597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542993297	chr13:66636635-66636636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561494241	chr13:66636689-66636690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371015177	chr13:66636704-66636705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541594338	chr13:66636730-66636731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188341127	chr13:66636752-66636753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116867009	chr13:66636753-66636754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528946329	chr13:66636754-66636755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541492758	chr13:66636791-66636792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564370622	chr13:66636877-66636878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140538732	chr13:66637028-66637029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74831945	chr13:66637037-66637038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565690148	chr13:66637038-66637039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34447654	chr13:66637076-66637077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192756522	chr13:66637136-66637137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529533513	chr13:66637139-66637140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549277965	chr13:66637159-66637160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566249631	chr13:66637178-66637179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527424674	chr13:66637202-66637203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547467206	chr13:66637203-66637204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183721179	chr13:66637205-66637206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66634600-66636400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:66636400-66636600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:66636600-66638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:66643200-66644000	Enhancers	Liver	Liver
5	chr13:66643600-66644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:66644200-66646200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:66644400-66645200	Enhancers	K562	blood
8	chr13:66645000-66646400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:66645200-66647600	Weak transcription	K562	blood
10	chr13:66645800-66646600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:66646200-66646400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:66647600-66648600	Enhancers	K562	blood
13	chr13:66648600-66651600	Weak transcription	K562	blood
14	chr13:66651600-66651800	Enhancers	K562	blood
15	chr13:66651800-66654000	Weak transcription	K562	blood
16	chr13:66654000-66654200	Enhancers	K562	blood
17	chr13:66660800-66662600	Enhancers	Fetal Kidney	kidney
18	chr13:66661400-66662000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:66661400-66662000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:66661400-66662400	Enhancers	Fetal Lung	lung
21	chr13:66666600-66667000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:66666800-66667000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:66666800-66667000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:66667000-66668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:66668600-66668800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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