Variant report

Variant	nsv561592
Chromosome Location	chr13:49531551-49535314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49535149..49536967-chr13:49548289..49550226,2	K562	blood:
2	chr13:49518698..49520988-chr13:49531338..49533079,2	K562	blood:
3	chr13:49535111..49537978-chr13:49544443..49546396,2	K562	blood:

Variant related genes	Relation type
ENSG00000102531	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7338291	chr13:49531551-49531552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538655580	chr13:49531565-49531566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553723260	chr13:49531567-49531568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553471848	chr13:49531590-49531591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573558052	chr13:49531616-49531617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117665575	chr13:49531639-49531640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536138033	chr13:49531668-49531669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375720931	chr13:49531710-49531711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554392774	chr13:49531720-49531721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575839512	chr13:49531725-49531726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186019855	chr13:49531726-49531727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543177109	chr13:49531741-49531742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190484889	chr13:49531747-49531748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117072336	chr13:49531752-49531753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545427593	chr13:49531794-49531795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149426947	chr13:49531809-49531810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113885531	chr13:49531817-49531818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576550635	chr13:49531853-49531854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77311161	chr13:49531900-49531901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549709004	chr13:49531907-49531908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75249796	chr13:49531920-49531921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199753511	chr13:49531963-49531964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531964893	chr13:49531979-49531980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139813129	chr13:49532027-49532028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571353039	chr13:49532044-49532045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538345485	chr13:49532087-49532088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545175054	chr13:49532126-49532127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369313438	chr13:49532132-49532133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187072575	chr13:49532153-49532154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565339770	chr13:49532188-49532189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535803189	chr13:49532190-49532191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554456039	chr13:49532192-49532193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575900745	chr13:49532201-49532202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191069395	chr13:49532203-49532204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143313920	chr13:49532210-49532211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578085652	chr13:49532211-49532212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182970836	chr13:49532212-49532213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187556890	chr13:49532231-49532232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146216495	chr13:49532282-49532283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6561489	chr13:49532446-49532447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs193295343	chr13:49532494-49532495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541175504	chr13:49532505-49532506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148416392	chr13:49532518-49532519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142626948	chr13:49532523-49532524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567119953	chr13:49532557-49532558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532692385	chr13:49532601-49532602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547182263	chr13:49532619-49532620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565399194	chr13:49532683-49532684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185550620	chr13:49532701-49532702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530049758	chr13:49532784-49532785	Enhancers	n/a	n/a	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49529800-49532000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:49531800-49532800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr13:49532000-49532800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:49532800-49535200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:49535200-49536200	Enhancers	Monocytes-CD14+_RO01746	blood

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