Variant report

Variant	nsv561594
Chromosome Location	chr13:49533568-49535482
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	chr13:49535111..49537978-chr13:49544443..49546396,2	K562	blood:
2	chr13:49535149..49536967-chr13:49548289..49550226,2	K562	blood:

Variant related genes	Relation type
ENSG00000102531	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9526508	chr13:49533568-49533569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530485078	chr13:49533637-49533638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74452160	chr13:49533642-49533643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149739551	chr13:49533703-49533704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192636759	chr13:49533803-49533804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61407683	chr13:49533828-49533829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398022699	chr13:49533830-49533831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58689908	chr13:49533833-49533834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376312138	chr13:49533843-49533844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184616840	chr13:49533844-49533845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376888227	chr13:49533861-49533862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553189872	chr13:49533869-49533870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189129007	chr13:49533961-49533962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566217852	chr13:49533973-49533974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147889109	chr13:49534024-49534025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555050853	chr13:49534076-49534077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576366331	chr13:49534077-49534078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543766081	chr13:49534116-49534117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559008088	chr13:49534221-49534222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370627755	chr13:49534298-49534299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9526509	chr13:49534317-49534318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182587188	chr13:49534319-49534320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114982774	chr13:49534396-49534397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34946117	chr13:49534404-49534405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141533769	chr13:49534458-49534459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563010990	chr13:49534520-49534521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79442959	chr13:49534579-49534580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186303389	chr13:49534583-49534584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4624059	chr13:49534602-49534603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528379896	chr13:49534721-49534722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77695013	chr13:49534750-49534751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76831976	chr13:49534769-49534770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5803451	chr13:49534770-49534771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201733423	chr13:49534773-49534774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201457813	chr13:49534786-49534787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568263412	chr13:49534802-49534803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189197998	chr13:49534813-49534814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548713328	chr13:49534862-49534863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147699606	chr13:49534868-49534869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537078602	chr13:49534894-49534895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558894557	chr13:49534897-49534898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181608648	chr13:49535030-49535031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370861526	chr13:49535045-49535046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185784325	chr13:49535046-49535047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78124498	chr13:49535091-49535092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535889541	chr13:49535170-49535171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556150980	chr13:49535171-49535172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74587028	chr13:49535323-49535324	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563270022	chr13:49535364-49535365	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191570784	chr13:49535386-49535387	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49532800-49535200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:49535200-49536200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr13:49535400-49536000	Enhancers	Primary monocytes fromperipheralblood	blood

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