Variant report

Variant	nsv977244
Chromosome Location	chr13:52936623-52940828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576483547	chr13:52936710-52936711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545417846	chr13:52936731-52936732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375241237	chr13:52936746-52936747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572732950	chr13:52936786-52936787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542135549	chr13:52936840-52936841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529421741	chr13:52936922-52936923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116860555	chr13:52936937-52936938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370755756	chr13:52936975-52936976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544379644	chr13:52937046-52937047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373614541	chr13:52937072-52937073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377368688	chr13:52937123-52937124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372143041	chr13:52937167-52937168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533433735	chr13:52937176-52937177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546765210	chr13:52937198-52937199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560566348	chr13:52937214-52937215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4884526	chr13:52937216-52937217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74085722	chr13:52937217-52937218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569167688	chr13:52937237-52937238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12585640	chr13:52937278-52937279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538053870	chr13:52937289-52937290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373008419	chr13:52937291-52937292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146793232	chr13:52937292-52937293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570226969	chr13:52937311-52937312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35314298	chr13:52937370-52937371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539552302	chr13:52937402-52937403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527340785	chr13:52937448-52937449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182480403	chr13:52937463-52937464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535093514	chr13:52937472-52937473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188456095	chr13:52937479-52937480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193037002	chr13:52937503-52937504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544438369	chr13:52937534-52937535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9596650	chr13:52937543-52937544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577892251	chr13:52937556-52937557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540771642	chr13:52937569-52937570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560376720	chr13:52937620-52937621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377432857	chr13:52937701-52937702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151129720	chr13:52937711-52937712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373288719	chr13:52937721-52937722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150254888	chr13:52937742-52937743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200933973	chr13:52937746-52937747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551691740	chr13:52937806-52937807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531851050	chr13:52937818-52937819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551641380	chr13:52937826-52937827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115659488	chr13:52937828-52937829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11617703	chr13:52937832-52937833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546714844	chr13:52937833-52937834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9536028	chr13:52937844-52937845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs568781333	chr13:52937845-52937846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555371686	chr13:52937864-52937865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116784141	chr13:52937888-52937889	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52931400-52937200	Weak transcription	NH-A	brain
2	chr13:52934000-52951800	Weak transcription	Fetal Intestine Small	intestine
3	chr13:52934400-52940400	Weak transcription	Fetal Lung	lung
4	chr13:52934600-52944800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:52934800-52940400	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:52935600-52937400	Enhancers	Osteobl	bone
7	chr13:52936000-52937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:52937200-52937400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:52937200-52937400	Enhancers	NH-A	brain
10	chr13:52940200-52940800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:52940400-52941000	Enhancers	Fetal Lung	lung
12	chr13:52940400-52941600	Enhancers	Fetal Muscle Leg	muscle
13	chr13:52940800-52945800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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