Variant report

Variant	nsv983710
Chromosome Location	chr13:52645262-52653109
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	chr13:52645505..52647526-chr13:52648523..52650064,2	K562	blood:
2	chr13:52645505..52647526-chr13:52648523..52650064,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112112821	chr13:52645275-52645276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79471741	chr13:52645281-52645282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs150145876	chr13:52645304-52645305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539167790	chr13:52645313-52645314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552265192	chr13:52645366-52645367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74087051	chr13:52645411-52645412	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138768478	chr13:52645461-52645462	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73184352	chr13:52645502-52645503	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574803656	chr13:52645527-52645528	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188224784	chr13:52645546-52645547	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557580474	chr13:52645600-52645601	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35302368	chr13:52645602-52645603	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192969646	chr13:52645603-52645604	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4297592	chr13:52645678-52645679	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs551604432	chr13:52645735-52645736	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572042758	chr13:52645757-52645758	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143644116	chr13:52645786-52645787	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561123756	chr13:52645828-52645829	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530042137	chr13:52645831-52645832	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543247520	chr13:52645887-52645888	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563524677	chr13:52645956-52645957	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532224353	chr13:52645964-52645965	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117288113	chr13:52645995-52645996	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117450607	chr13:52646025-52646026	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528430415	chr13:52646028-52646029	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375739928	chr13:52646088-52646089	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141453503	chr13:52646121-52646122	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548218941	chr13:52646132-52646133	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138342075	chr13:52646153-52646154	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138250063	chr13:52646162-52646163	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149641412	chr13:52646203-52646204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377669657	chr13:52646245-52646246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557257895	chr13:52646275-52646276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188855854	chr13:52646281-52646282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4943056	chr13:52646360-52646361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112275224	chr13:52646508-52646509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115443050	chr13:52646577-52646578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572180147	chr13:52646581-52646582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541014767	chr13:52646590-52646591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2408551	chr13:52646602-52646603	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs114971187	chr13:52646617-52646618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138252998	chr13:52646649-52646650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9535852	chr13:52646694-52646695	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193217705	chr13:52646775-52646776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183639650	chr13:52646831-52646832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545605038	chr13:52646865-52646866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529279382	chr13:52646962-52646963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559414722	chr13:52647056-52647057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187955560	chr13:52647062-52647063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144086128	chr13:52647130-52647131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52644200-52646000	Enhancers	HSMMtube	muscle
2	chr13:52644400-52647800	Weak transcription	Brain Anterior Caudate	brain
3	chr13:52644600-52646000	Enhancers	HSMM	muscle
4	chr13:52644800-52646200	Enhancers	HepG2	liver
5	chr13:52644800-52646200	Enhancers	K562	blood
6	chr13:52645000-52645800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:52645000-52646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:52645000-52646000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:52645000-52646000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:52645000-52646000	Enhancers	HMEC	breast
11	chr13:52645200-52645800	Enhancers	Dnd41	blood
12	chr13:52645200-52645800	Enhancers	NHEK	skin
13	chr13:52645400-52645800	Enhancers	HUVEC	blood vessel
14	chr13:52645400-52646000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:52645400-52647000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr13:52645600-52646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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