Variant report

Variant	nsv974028
Chromosome Location	chr13:69505627-69533104
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	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:
2	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1340720	chr13:69512812-69512813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74740542	chr13:69512825-69512826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572524635	chr13:69512844-69512845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185907886	chr13:69512845-69512846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551750164	chr13:69512860-69512861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149737978	chr13:69512861-69512862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571579528	chr13:69512865-69512866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9529460	chr13:69512921-69512922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371586715	chr13:69512933-69512934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190317364	chr13:69512940-69512941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565857020	chr13:69512942-69512943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547181658	chr13:69512945-69512946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376832089	chr13:69512951-69512952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573867262	chr13:69512958-69512959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147671368	chr13:69512982-69512983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552608089	chr13:69512983-69512984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572882144	chr13:69513008-69513009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544820546	chr13:69513035-69513036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564884733	chr13:69513037-69513038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575150296	chr13:69513047-69513048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61950962	chr13:69513051-69513052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561171173	chr13:69513055-69513056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529875726	chr13:69513065-69513066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369334229	chr13:69513075-69513076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546809244	chr13:69513085-69513086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560135383	chr13:69513098-69513099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528564235	chr13:69513130-69513131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551617200	chr13:69513133-69513134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140672699	chr13:69513169-69513170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144723709	chr13:69513181-69513182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61950963	chr13:69513194-69513195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567627257	chr13:69513212-69513213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536585396	chr13:69513239-69513240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543788128	chr13:69513242-69513243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73209773	chr13:69513253-69513254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7999508	chr13:69513258-69513259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147916279	chr13:69513316-69513317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558393434	chr13:69513327-69513328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61950964	chr13:69513343-69513344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6562545	chr13:69513349-69513350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35849658	chr13:69513356-69513357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377456072	chr13:69513394-69513395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560907721	chr13:69513411-69513412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574782230	chr13:69513473-69513474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540562215	chr13:69513534-69513535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79690767	chr13:69513562-69513563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527425458	chr13:69513576-69513577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532222352	chr13:69513600-69513601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545455069	chr13:69513620-69513621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9572045	chr13:69513690-69513691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69512800-69515200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:69513200-69514400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:69513200-69514600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:69513200-69515000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:69513600-69514600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:69513800-69514600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:69514000-69514600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:69514000-69514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:69514400-69514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:69516400-69516600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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