Variant report

Variant	nsv1091
Chromosome Location	chr13:76282392-76327906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76279169..76281047-chr13:76286022..76288231,2	MCF-7	breast:
2	chr13:76317185..76320050-chr13:76322503..76324953,2	K562	blood:
3	chr13:76276163..76278819-chr13:76286604..76288192,2	K562	blood:
4	chr13:76317185..76320050-chr13:76322503..76324953,2	K562	blood:
5	chr13:76278744..76281053-chr13:76282794..76285725,2	K562	blood:
6	chr13:76272265..76273781-chr13:76290115..76292337,2	MCF-7	breast:

Extended variants
information (count: 1828 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187059807	chr13:76282417-76282418	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554987164	chr13:76282421-76282422	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576469875	chr13:76282530-76282531	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564821650	chr13:76282531-76282532	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191789175	chr13:76282570-76282571	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184134870	chr13:76282644-76282645	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374290833	chr13:76282645-76282646	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541262538	chr13:76282658-76282659	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376246138	chr13:76282673-76282674	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116581470	chr13:76282674-76282675	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574182934	chr13:76282775-76282776	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368629740	chr13:76282785-76282786	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541492416	chr13:76282814-76282815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370348110	chr13:76282869-76282870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73225954	chr13:76282885-76282886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187823318	chr13:76282887-76282888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192500982	chr13:76282895-76282896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185591039	chr13:76282930-76282931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189469837	chr13:76282965-76282966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568075106	chr13:76282978-76282979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13378926	chr13:76283012-76283013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568296224	chr13:76283063-76283064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13378927	chr13:76283067-76283068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138575831	chr13:76283081-76283082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570136470	chr13:76283082-76283083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566618236	chr13:76283089-76283090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13378446	chr13:76283090-76283091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191950925	chr13:76283095-76283096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375765405	chr13:76283109-76283110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145237101	chr13:76283118-76283119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368847453	chr13:76283122-76283123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535022094	chr13:76283154-76283155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553270274	chr13:76283180-76283181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138160806	chr13:76283202-76283203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542022991	chr13:76283203-76283204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556597282	chr13:76283210-76283211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371876852	chr13:76283249-76283250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575335478	chr13:76283269-76283270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376962980	chr13:76283280-76283281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564134239	chr13:76283288-76283289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538942340	chr13:76283304-76283305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78028140	chr13:76283312-76283313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150577373	chr13:76283331-76283332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138603936	chr13:76283336-76283337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184418259	chr13:76283378-76283379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575440735	chr13:76283383-76283384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570050439	chr13:76283395-76283396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9544030	chr13:76283396-76283397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201756057	chr13:76283430-76283431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554761975	chr13:76283431-76283432	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:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259600-76294400	Weak transcription	Ovary	ovary
2	chr13:76271400-76286000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:76279400-76282400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:76279400-76286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76279400-76288600	Weak transcription	Psoas Muscle	Psoas
6	chr13:76279400-76308000	Weak transcription	Left Ventricle	heart
7	chr13:76280400-76282400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:76280400-76282600	Weak transcription	Small Intestine	intestine
9	chr13:76280400-76282600	Enhancers	Hela-S3	cervix
10	chr13:76280400-76285600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:76280400-76286400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:76280400-76287800	Weak transcription	Stomach Mucosa	stomach
13	chr13:76280400-76289800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:76280400-76289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:76280600-76285800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:76280600-76286400	Weak transcription	NHLF	lung
17	chr13:76280600-76287200	Weak transcription	NHDF-Ad	bronchial
18	chr13:76280600-76287400	Weak transcription	NH-A	brain
19	chr13:76280600-76288000	Weak transcription	HSMMtube	muscle
20	chr13:76280800-76289800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:76281000-76287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:76281000-76287800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:76281600-76285600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:76281800-76282400	Strong transcription	Osteobl	bone
25	chr13:76282200-76282400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr13:76282200-76282400	Enhancers	Fetal Intestine Large	intestine
27	chr13:76282200-76282800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:76282200-76282800	Strong transcription	HSMM	muscle
29	chr13:76282400-76282600	Enhancers	Duodenum Mucosa	Duodenum
30	chr13:76282400-76282600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr13:76282400-76282800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:76282400-76282800	Genic enhancers	Osteobl	bone
33	chr13:76282400-76286000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:76282600-76282800	Enhancers	Small Intestine	intestine
35	chr13:76282600-76283000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:76282600-76286200	Weak transcription	Hela-S3	cervix
37	chr13:76282800-76285800	Weak transcription	Osteobl	bone
38	chr13:76282800-76286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:76282800-76286000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:76282800-76286000	Weak transcription	HSMM	muscle
41	chr13:76283600-76308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:76284600-76285200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:76285600-76286200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:76285600-76286600	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr13:76285800-76286600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:76285800-76289000	Genic enhancers	Osteobl	bone
47	chr13:76286000-76286200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr13:76286000-76286200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:76286000-76286200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr13:76286000-76286400	Genic enhancers	HSMM	muscle

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