Variant report

Variant	nsv976261
Chromosome Location	chr13:76297598-76301199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146404261	chr13:76297610-76297611	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185850982	chr13:76297635-76297636	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551244558	chr13:76297639-76297640	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189976516	chr13:76297647-76297648	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561578817	chr13:76297652-76297653	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529030835	chr13:76297812-76297813	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369807320	chr13:76297829-76297830	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181635364	chr13:76297831-76297832	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139747972	chr13:76297833-76297834	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9573633	chr13:76297838-76297839	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185411649	chr13:76297858-76297859	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190188069	chr13:76297871-76297872	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1323710	chr13:76297887-76297888	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs35138645	chr13:76297890-76297891	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551360323	chr13:76297903-76297904	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577429211	chr13:76297944-76297945	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539515990	chr13:76297961-76297962	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34271664	chr13:76297990-76297991	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558237362	chr13:76297994-76297995	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573326637	chr13:76298008-76298009	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57564569	chr13:76298033-76298034	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370150646	chr13:76298092-76298093	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180678037	chr13:76298103-76298104	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562243876	chr13:76298124-76298125	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112469186	chr13:76298127-76298128	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185992738	chr13:76298156-76298157	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563037530	chr13:76298167-76298168	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533589583	chr13:76298202-76298203	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545083664	chr13:76298320-76298321	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78030237	chr13:76298361-76298362	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150664849	chr13:76298379-76298380	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191187539	chr13:76298406-76298407	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373998994	chr13:76298483-76298484	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9573634	chr13:76298514-76298515	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183843332	chr13:76298540-76298541	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139840650	chr13:76298559-76298560	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189157029	chr13:76298561-76298562	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549683745	chr13:76298600-76298601	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149693580	chr13:76298605-76298606	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374206618	chr13:76298715-76298716	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190568039	chr13:76298716-76298717	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183079929	chr13:76298750-76298751	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79378798	chr13:76298757-76298758	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533920726	chr13:76298789-76298790	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555767621	chr13:76298844-76298845	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368537607	chr13:76298864-76298865	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114554946	chr13:76298889-76298890	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549684490	chr13:76298896-76298897	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187069691	chr13:76298934-76298935	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115539794	chr13:76298935-76298936	Enhancers Genic 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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76279400-76308000	Weak transcription	Left Ventricle	heart
2	chr13:76283600-76308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76288200-76297800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:76290600-76298000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:76290600-76298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:76290600-76298200	Weak transcription	Aorta	Aorta
7	chr13:76290600-76298400	Weak transcription	Fetal Lung	lung
8	chr13:76290800-76299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:76291600-76298000	Strong transcription	HSMM	muscle
10	chr13:76292800-76297800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:76293800-76298000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:76294000-76300200	Weak transcription	HSMMtube	muscle
13	chr13:76294400-76297800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:76294400-76299000	Weak transcription	NHLF	lung
15	chr13:76294800-76297800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:76294800-76321800	Weak transcription	NH-A	brain
17	chr13:76295000-76297600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:76295000-76297600	Weak transcription	NHDF-Ad	bronchial
19	chr13:76295000-76298000	Weak transcription	Stomach Mucosa	stomach
20	chr13:76297000-76300800	Enhancers	Hela-S3	cervix
21	chr13:76297200-76297600	Genic enhancers	Osteobl	bone
22	chr13:76297200-76297800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:76297400-76297800	Weak transcription	Placenta	Placenta
24	chr13:76297600-76298800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:76297600-76299800	Enhancers	NHDF-Ad	bronchial
26	chr13:76297600-76300000	Enhancers	Osteobl	bone
27	chr13:76297800-76298000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:76297800-76298600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76297800-76298600	Enhancers	Small Intestine	intestine
30	chr13:76297800-76300200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:76297800-76300200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr13:76297800-76300400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:76297800-76301400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:76297800-76301400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:76298000-76298200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:76298000-76298200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:76298000-76298200	Enhancers	Fetal Heart	heart
38	chr13:76298000-76298200	Weak transcription	HSMM	muscle
39	chr13:76298000-76298400	Enhancers	Placenta	Placenta
40	chr13:76298000-76298600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:76298000-76299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr13:76298000-76299400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:76298000-76299600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:76298000-76301400	Enhancers	Stomach Mucosa	stomach
45	chr13:76298200-76298400	Enhancers	Aorta	Aorta
46	chr13:76298200-76298600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:76298200-76298600	Enhancers	Gastric	stomach
48	chr13:76298200-76298600	Enhancers	Psoas Muscle	Psoas
49	chr13:76298200-76298600	Enhancers	HSMM	muscle
50	chr13:76298200-76299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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