Variant report

Variant	nsv974189
Chromosome Location	chr13:67983069-67986271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568533535	chr13:67983120-67983121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144060751	chr13:67983148-67983149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541817512	chr13:67983163-67983164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73507060	chr13:67983177-67983178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201945227	chr13:67983182-67983183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535976679	chr13:67983190-67983191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527318496	chr13:67983197-67983198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548067352	chr13:67983227-67983228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571061835	chr13:67983248-67983249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138740065	chr13:67983254-67983255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188683657	chr13:67983266-67983267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569789438	chr13:67983281-67983282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535535268	chr13:67983296-67983297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1173112	chr13:67983298-67983299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180827640	chr13:67983355-67983356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534754139	chr13:67983368-67983369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553983930	chr13:67983372-67983373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186278808	chr13:67983400-67983401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539584423	chr13:67983442-67983443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553728085	chr13:67983443-67983444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201303134	chr13:67983447-67983448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375513944	chr13:67983535-67983536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576332171	chr13:67983568-67983569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189192327	chr13:67983627-67983628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74093750	chr13:67983684-67983685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572024772	chr13:67983707-67983708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545918947	chr13:67983710-67983711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182232647	chr13:67983711-67983712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542796987	chr13:67983744-67983745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76850437	chr13:67983766-67983767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564767551	chr13:67983793-67983794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1185357	chr13:67983815-67983816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576691923	chr13:67983928-67983929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111555906	chr13:67983970-67983971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146045235	chr13:67984014-67984015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112356437	chr13:67984030-67984031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549060745	chr13:67984097-67984098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113959975	chr13:67984147-67984148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111975120	chr13:67984170-67984171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1937536	chr13:67984180-67984181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551498535	chr13:67984181-67984182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142332662	chr13:67984222-67984223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34081100	chr13:67984239-67984240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539331797	chr13:67984253-67984254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374358745	chr13:67984303-67984304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1781607	chr13:67984313-67984314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113211715	chr13:67984336-67984337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186494739	chr13:67984379-67984380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555463490	chr13:67984419-67984420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572062864	chr13:67984420-67984421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Myelofibrosis	22110671	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67982400-67983400	Enhancers	Fetal Brain Male	brain
2	chr13:67982800-67983200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:67982800-67983200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:67982800-67983200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:67982800-67983200	Enhancers	HepG2	liver
6	chr13:67982800-67983400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:67982800-67983400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:67983000-67983200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:67983000-67983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:67983000-67983400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:67983400-67984600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:67983400-67984800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:67983400-67984800	Weak transcription	Fetal Brain Male	brain
14	chr13:67983600-67984400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:67984000-67985400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:67984200-67984400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:67984400-67985400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:67984600-67985400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:67984600-67985600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:67984800-67985000	Enhancers	Fetal Brain Male	brain
21	chr13:67984800-67985400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr13:67985000-67985200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr13:67985200-67985400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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