Variant report

Variant	nsv900362
Chromosome Location	chr13:65271533-65324829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
2	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
3	chr13:65293521..65294041-chr8:107636082..107636585,2	MCF-7	breast:
4	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
5	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:

Extended variants
information (count: 1378 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1378 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9540194	chr13:65271533-65271534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571294892	chr13:65271577-65271578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79806436	chr13:65271580-65271581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139819396	chr13:65271591-65271592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368888507	chr13:65271595-65271596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373518778	chr13:65271654-65271655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536063347	chr13:65271657-65271658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553180195	chr13:65271663-65271664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115421724	chr13:65271730-65271731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375401540	chr13:65271765-65271766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116011786	chr13:65271779-65271780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545543190	chr13:65275253-65275254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562608427	chr13:65275333-65275334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531355252	chr13:65275335-65275336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567836967	chr13:65275371-65275372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191925945	chr13:65275372-65275373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371798198	chr13:65275376-65275377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73198472	chr13:65275404-65275405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11840866	chr13:65275418-65275419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73198473	chr13:65275429-65275430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34164451	chr13:65275443-65275444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145971354	chr13:65275476-65275477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545635550	chr13:65275509-65275510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535615426	chr13:65275527-65275528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201481093	chr13:65275538-65275539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555913028	chr13:65275540-65275541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59679230	chr13:65275551-65275552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565958930	chr13:65275638-65275639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534955467	chr13:65275642-65275643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74090025	chr13:65275653-65275654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576386796	chr13:65275660-65275661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545783517	chr13:65275679-65275680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139865356	chr13:65275682-65275683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576074424	chr13:65275701-65275702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541589419	chr13:65275712-65275713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561837420	chr13:65275796-65275797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367841297	chr13:65275824-65275825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180941064	chr13:65275833-65275834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564374124	chr13:65275837-65275838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533311571	chr13:65275860-65275861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117717774	chr13:65275885-65275886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184406354	chr13:65275898-65275899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189705976	chr13:65275965-65275966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141170839	chr13:65275989-65275990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9540197	chr13:65276015-65276016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369857478	chr13:65276037-65276038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534896247	chr13:65276081-65276082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557978758	chr13:65276104-65276105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181274398	chr13:65276215-65276216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537380532	chr13:65276223-65276224	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
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	20606397	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65271400-65271800	Enhancers	HUVEC	blood vessel
2	chr13:65275200-65275400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:65275400-65283000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:65277600-65280600	Enhancers	Fetal Intestine Small	intestine
5	chr13:65280600-65280800	Weak transcription	Fetal Intestine Small	intestine
6	chr13:65280600-65281000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:65280800-65281200	Enhancers	Fetal Intestine Small	intestine
8	chr13:65281200-65283200	Weak transcription	Fetal Intestine Small	intestine
9	chr13:65281400-65281600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:65282200-65282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:65282800-65283200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:65283000-65283400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:65283000-65283400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:65283000-65283600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:65283000-65283800	Enhancers	NHDF-Ad	bronchial
16	chr13:65283200-65283600	Enhancers	Fetal Intestine Small	intestine
17	chr13:65283200-65287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:65283400-65283600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:65283400-65283800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:65287200-65287600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:65289000-65290200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:65290000-65290200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:65290000-65293200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:65290200-65290400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:65290200-65290800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:65290400-65291000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:65290400-65293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:65290800-65292400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:65291000-65291600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:65291000-65291800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:65291800-65292800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:65292400-65297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:65293200-65296000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:65293200-65296000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:65293600-65298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:65296000-65296200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:65296000-65298600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:65296200-65296800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:65296200-65297400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:65296600-65297400	Enhancers	HUVEC	blood vessel
41	chr13:65296800-65297000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:65296800-65297400	Enhancers	A549	lung
43	chr13:65296800-65298400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:65296800-65298600	Enhancers	NHDF-Ad	bronchial
45	chr13:65297000-65297800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:65297000-65298400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:65297000-65298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:65297400-65297800	Flanking Active TSS	A549	lung
49	chr13:65297400-65297800	Flanking Active TSS	HUVEC	blood vessel
50	chr13:65297400-65298000	Enhancers	HSMMtube	muscle

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