Variant report

Variant	nsv561679
Chromosome Location	chr13:54184237-54215094
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	chr13:54214945..54217343-chr13:54221329..54223882,2	K562	blood:
2	chr13:54128556..54131217-chr13:54185376..54186896,2	MCF-7	breast:

Extended variants
information (count: 410 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17087596	chr13:54184422-54184423	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4594125	chr13:54184452-54184453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs142567387	chr13:54184470-54184471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570200118	chr13:54184493-54184494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192125324	chr13:54184534-54184535	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552523807	chr13:54184579-54184580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150944669	chr13:54184581-54184582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs943828	chr13:54184616-54184617	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556021579	chr13:54184618-54184619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575887715	chr13:54184629-54184630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182588799	chr13:54184671-54184672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186792550	chr13:54184690-54184691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191926930	chr13:54184740-54184741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77897031	chr13:54184763-54184764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140745871	chr13:54184766-54184767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144597412	chr13:54184790-54184791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532000750	chr13:54194433-54194434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552107343	chr13:54194493-54194494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201214000	chr13:54194504-54194505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187798206	chr13:54194509-54194510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74975134	chr13:54194516-54194517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527872411	chr13:54194532-54194533	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553051126	chr13:54194561-54194562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572823291	chr13:54194567-54194568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs9536483	chr13:54194594-54194595	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368293374	chr13:54195816-54195817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569740144	chr13:54195826-54195827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538757335	chr13:54195847-54195848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141858929	chr13:54195902-54195903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9591525	chr13:54195907-54195908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs9536485	chr13:54195921-54195922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150188032	chr13:54195964-54195965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9316642	chr13:54195972-54195973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543579209	chr13:54196000-54196001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563554468	chr13:54196027-54196028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181907901	chr13:54196040-54196041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372437495	chr13:54196100-54196101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377510467	chr13:54196176-54196177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546281193	chr13:54196192-54196193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551332808	chr13:54196207-54196208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115242216	chr13:54196228-54196229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528478566	chr13:54196234-54196235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562819864	chr13:54196252-54196253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61954112	chr13:54196262-54196263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539461344	chr13:54196319-54196320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552649270	chr13:54196329-54196330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369753832	chr13:54196336-54196337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547714130	chr13:54196341-54196342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138696021	chr13:54196344-54196345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538691808	chr13:54196395-54196396	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Gastrointestinal stromal cancer	20877625	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
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54184400-54184800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:54194400-54194600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:54195800-54196600	Enhancers	NH-A	brain
4	chr13:54195800-54198200	Enhancers	Fetal Brain Male	brain
5	chr13:54197600-54200000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:54201000-54201400	Enhancers	Fetal Heart	heart
7	chr13:54203000-54203200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:54204800-54205800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:54205000-54205400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:54205000-54205600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:54205800-54206000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:54210800-54211400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:54211200-54211800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:54211200-54212000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:54211200-54212600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:54211800-54216400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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