Variant report

Variant	nsv518338
Chromosome Location	chr13:54788842-54812498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 623 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1413882	chr13:54788842-54788843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565838043	chr13:54788906-54788907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532772104	chr13:54788994-54788995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544858177	chr13:54789097-54789098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534753464	chr13:54789103-54789104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554962437	chr13:54789132-54789133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146106603	chr13:54789162-54789163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182292966	chr13:54789180-54789181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138855770	chr13:54789244-54789245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539800506	chr13:54789296-54789297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141433480	chr13:54789315-54789316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565028852	chr13:54789322-54789323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572183973	chr13:54789337-54789338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374516576	chr13:54789340-54789341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186641426	chr13:54789351-54789352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150829016	chr13:54789419-54789420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113021996	chr13:54789502-54789503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549736306	chr13:54789504-54789505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150063263	chr13:54789510-54789511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532664411	chr13:54789511-54789512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552361967	chr13:54789517-54789518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565901192	chr13:54789584-54789585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114853209	chr13:54789669-54789670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548420958	chr13:54789670-54789671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75664366	chr13:54789725-54789726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537089155	chr13:54789755-54789756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538558242	chr13:54789801-54789802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576405367	chr13:54789817-54789818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533006667	chr13:54789823-54789824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191853938	chr13:54789826-54789827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372189915	chr13:54789870-54789871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73506061	chr13:54789872-54789873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541199126	chr13:54789896-54789897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184814195	chr13:54789976-54789977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528973331	chr13:54789999-54790000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2576140	chr13:54790033-54790034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2782517	chr13:54790043-54790044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs117873294	chr13:54790052-54790053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188073980	chr13:54790072-54790073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192944028	chr13:54790080-54790081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36096383	chr13:54790119-54790120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17604306	chr13:54790135-54790136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559596038	chr13:54790140-54790141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571526815	chr13:54790185-54790186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528710797	chr13:54790213-54790214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112879170	chr13:54790252-54790253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568506007	chr13:54790265-54790266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539868016	chr13:54790267-54790268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185144616	chr13:54790270-54790271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375110580	chr13:54790279-54790280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Acute lymphoblastic leukemia	22237106	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
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54785400-54792000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:54792000-54793000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr13:54792800-54793400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr13:54793200-54793400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:54793600-54794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:54799400-54802000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:54801000-54801200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:54801000-54801400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:54801000-54801400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:54801000-54801400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:54801000-54801400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:54801000-54801400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:54801000-54801400	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr13:54801000-54801400	Enhancers	Brain Substantia Nigra	brain
15	chr13:54801200-54801400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:54801200-54801400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:54801200-54801400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:54801200-54801400	ZNF genes & repeats	Gastric	stomach
19	chr13:54801200-54806800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:54801400-54808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:54801400-54821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:54801600-54806400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:54802800-54803200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:54803200-54815400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:54804000-54804400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:54804400-54806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:54806400-54806600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:54806400-54806600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:54806600-54807000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr13:54806600-54807200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:54806800-54807000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:54807000-54807400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr13:54807000-54807600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:54807200-54807400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:54807200-54821200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:54807400-54807600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:54807600-54815800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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