Variant report

Variant	nsv900349
Chromosome Location	chr13:65117966-65193124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
2	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
3	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
4	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
5	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
6	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:

Extended variants
information (count: 546 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9540145	chr13:65117966-65117967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558167526	chr13:65117983-65117984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149270773	chr13:65117996-65117997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115808958	chr13:65118031-65118032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9540146	chr13:65118046-65118047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9540147	chr13:65118117-65118118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143448054	chr13:65118267-65118268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529722136	chr13:65118297-65118298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548197220	chr13:65118308-65118309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567909514	chr13:65118314-65118315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535302277	chr13:65118363-65118364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546910360	chr13:65118375-65118376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555776174	chr13:65118376-65118377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201978528	chr13:65118409-65118410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571823857	chr13:65118427-65118428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538804018	chr13:65118429-65118430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9317430	chr13:65118434-65118435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575328017	chr13:65118442-65118443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147970363	chr13:65118486-65118487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77250996	chr13:65118497-65118498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573090185	chr13:65118514-65118515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540536713	chr13:65118519-65118520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573431628	chr13:65118542-65118543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565005181	chr13:65118556-65118557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113629010	chr13:65118608-65118609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375518083	chr13:65118665-65118666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544381488	chr13:65118676-65118677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562612022	chr13:65118679-65118680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183764759	chr13:65118745-65118746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548233956	chr13:65118752-65118753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535058693	chr13:65118778-65118779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527255207	chr13:65118798-65118799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186610465	chr13:65118878-65118879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143078370	chr13:65118899-65118900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553823572	chr13:65118903-65118904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532611504	chr13:65118910-65118911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146145664	chr13:65118934-65118935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569039476	chr13:65118936-65118937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9571236	chr13:65118962-65118963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140171859	chr13:65118969-65118970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192453903	chr13:65118985-65118986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183796901	chr13:65118995-65118996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78753125	chr13:65119056-65119057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200324382	chr13:65119090-65119091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558823850	chr13:65119117-65119118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577199462	chr13:65119218-65119219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544464777	chr13:65119219-65119220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367920207	chr13:65119237-65119238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142183123	chr13:65119249-65119250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112370466	chr13:65119276-65119277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Multiple myeloma	17550852	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	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65113200-65119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:65115400-65124400	Weak transcription	HUVEC	blood vessel
3	chr13:65115600-65118800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:65116600-65118000	Enhancers	NHDF-Ad	bronchial
5	chr13:65118000-65120000	Weak transcription	NHDF-Ad	bronchial
6	chr13:65118400-65124400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:65118800-65119400	Enhancers	Hela-S3	cervix
8	chr13:65118800-65119600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:65118800-65120400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:65119000-65120400	Enhancers	HMEC	breast
11	chr13:65119200-65120000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:65119200-65121400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:65119600-65120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:65120000-65120600	Enhancers	NHDF-Ad	bronchial
15	chr13:65120200-65120400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:65120400-65124000	Weak transcription	HMEC	breast
17	chr13:65120400-65125600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:65120600-65121000	Weak transcription	NHDF-Ad	bronchial
19	chr13:65121000-65121200	Enhancers	NHDF-Ad	bronchial
20	chr13:65121200-65124000	Weak transcription	NHDF-Ad	bronchial
21	chr13:65121400-65125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:65123200-65123800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:65123800-65126600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:65124000-65124600	Enhancers	HMEC	breast
25	chr13:65124000-65131200	Enhancers	NHDF-Ad	bronchial
26	chr13:65124400-65124600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:65124400-65124800	Enhancers	HUVEC	blood vessel
28	chr13:65124600-65125600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:65124600-65127800	Weak transcription	HMEC	breast
30	chr13:65125600-65125800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:65125600-65126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:65125600-65126400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:65125800-65126200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:65126000-65129600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:65126200-65127200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:65126400-65127600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:65126400-65127800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:65126600-65127000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:65127200-65127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:65127600-65128000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:65127800-65128000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:65127800-65128000	Enhancers	HMEC	breast
43	chr13:65129600-65131000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:65143800-65144200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:65144600-65145000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:65144600-65145000	Enhancers	Placenta Amnion	Placenta Amnion

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