Variant report

Variant	nsv514705
Chromosome Location	chr13:61715691-61718231
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	chr13:61718056..61720899-chr13:61723464..61726288,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79021803	chr13:61715762-61715763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546314798	chr13:61715777-61715778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7333770	chr13:61715804-61715805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200658065	chr13:61715823-61715824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570992386	chr13:61715846-61715847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538271330	chr13:61715854-61715855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376329467	chr13:61715885-61715886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564434786	chr13:61715893-61715894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143715459	chr13:61715906-61715907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569545905	chr13:61715991-61715992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536584649	chr13:61716000-61716001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188839885	chr13:61716009-61716010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4264288	chr13:61716038-61716039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573386079	chr13:61716050-61716051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115397585	chr13:61716072-61716073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs207473848	chr13:61716074-61716075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148124629	chr13:61716128-61716129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368335967	chr13:61716134-61716135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577382639	chr13:61716139-61716140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370286223	chr13:61716157-61716158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143829491	chr13:61716211-61716212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10638216	chr13:61716258-61716259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374673484	chr13:61716259-61716260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397789249	chr13:61716260-61716261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117203821	chr13:61716263-61716264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562698823	chr13:61716282-61716283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532969031	chr13:61716288-61716289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527657004	chr13:61716293-61716294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562570875	chr13:61716321-61716322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35897300	chr13:61716328-61716329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10638217	chr13:61716329-61716330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386379442	chr13:61716330-61716331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397767583	chr13:61716331-61716332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560414958	chr13:61716369-61716370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1514547	chr13:61716374-61716375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542599795	chr13:61716375-61716376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576548508	chr13:61716437-61716438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561212606	chr13:61716478-61716479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528302134	chr13:61716501-61716502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147252530	chr13:61716604-61716605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564643230	chr13:61716651-61716652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532040898	chr13:61716684-61716685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138191055	chr13:61716710-61716711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113632227	chr13:61716754-61716755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77586648	chr13:61716842-61716843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562797625	chr13:61716845-61716846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546591465	chr13:61716871-61716872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1158251	chr13:61716928-61716929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74080257	chr13:61716943-61716944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139569266	chr13:61716991-61716992	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61710600-61716000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr13:61715800-61716800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr13:61716000-61716800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr13:61716600-61717000	Enhancers	Fetal Brain Female	brain
5	chr13:61716800-61717000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:61716800-61717800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:61716800-61718400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:61717800-61720600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:61718000-61719600	Enhancers	Stomach Smooth Muscle	stomach

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