Variant report

Variant	nsv900377
Chromosome Location	chr13:65620889-65746182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:65721248..65723334-chr13:65726895..65729400,2	K562	blood:
2	chr13:65713474..65715643-chr13:65725699..65727986,2	K562	blood:
3	chr13:65697187..65698862-chr13:65702366..65704985,2	K562	blood:
4	chr13:65720664..65721646-chr3:80013843..80014668,2	MCF-7	breast:
5	chr13:65697187..65698862-chr13:65702366..65704985,2	K562	blood:
6	chr13:65721248..65723334-chr13:65726895..65729400,2	K562	blood:
7	chr13:65713474..65715643-chr13:65725699..65727986,2	K562	blood:

Extended variants
information (count: 586 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4884595	chr13:65621621-65621622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375716682	chr13:65621658-65621659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572384848	chr13:65621683-65621684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562475562	chr13:65621690-65621691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112379451	chr13:65621757-65621758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541411441	chr13:65621759-65621760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553722938	chr13:65621837-65621838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113343502	chr13:65621843-65621844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189665586	chr13:65621874-65621875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181575136	chr13:65621899-65621900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9540343	chr13:65621900-65621901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141699893	chr13:65621901-65621902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531466137	chr13:65621922-65621923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9540344	chr13:65621947-65621948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550575847	chr13:65638017-65638018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201048632	chr13:65638022-65638023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58784087	chr13:65638023-65638024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80317155	chr13:65638024-65638025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149066642	chr13:65638046-65638047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539087093	chr13:65638110-65638111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559101644	chr13:65638120-65638121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112431895	chr13:65638207-65638208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200483258	chr13:65638208-65638209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201564446	chr13:65638209-65638210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201960350	chr13:65638210-65638211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575108168	chr13:65638271-65638272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542204238	chr13:65638274-65638275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372713810	chr13:65638303-65638304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528087569	chr13:65638326-65638327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142106172	chr13:65638358-65638359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559531951	chr13:65638377-65638378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73504687	chr13:65638392-65638393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369069131	chr13:65638419-65638420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550786367	chr13:65638476-65638477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76123968	chr13:65638535-65638536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201836283	chr13:65638565-65638566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530064323	chr13:65638567-65638568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546921527	chr13:65638593-65638594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566830384	chr13:65638638-65638639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200446088	chr13:65638657-65638658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567034779	chr13:65638730-65638731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539049743	chr13:65638774-65638775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151160061	chr13:65638816-65638817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375909716	chr13:65638841-65638842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531500963	chr13:65638861-65638862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181821961	chr13:65638864-65638865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534785937	chr13:65638865-65638866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185218803	chr13:65638914-65638915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555183070	chr13:65639073-65639074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575026804	chr13:65639157-65639158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	18451855	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65621600-65622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:65638000-65638600	Enhancers	A549	lung
3	chr13:65638000-65639600	Enhancers	Fetal Heart	heart
4	chr13:65638600-65639600	Weak transcription	A549	lung
5	chr13:65639600-65639800	Enhancers	A549	lung
6	chr13:65649600-65651200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:65662800-65667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:65663400-65664600	Enhancers	Fetal Lung	lung
9	chr13:65663600-65664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:65663800-65664000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:65664600-65669400	Weak transcription	Fetal Lung	lung
12	chr13:65665200-65665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:65665400-65666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:65666400-65666600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:65669400-65669800	Enhancers	Fetal Lung	lung
16	chr13:65669400-65670000	Enhancers	Brain Hippocampus Middle	brain
17	chr13:65669600-65670000	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:65669800-65670200	Flanking Active TSS	Fetal Lung	lung
19	chr13:65686000-65687200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:65686200-65686400	Enhancers	NH-A	brain
21	chr13:65686200-65686600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:65686200-65686600	Enhancers	Hela-S3	cervix
23	chr13:65686200-65686800	Active TSS	NHDF-Ad	bronchial
24	chr13:65686400-65686600	Flanking Active TSS	NH-A	brain
25	chr13:65686400-65687000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:65686400-65687000	Enhancers	A549	lung
27	chr13:65686600-65686800	Enhancers	NH-A	brain
28	chr13:65686800-65687000	Active TSS	NH-A	brain
29	chr13:65707000-65707800	Active TSS	A549	lung
30	chr13:65707200-65707600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:65723800-65724200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:65724200-65724600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:65726800-65727000	Enhancers	GM12878-XiMat	blood
34	chr13:65727000-65727200	Flanking Active TSS	GM12878-XiMat	blood
35	chr13:65727000-65727400	Active TSS	A549	lung
36	chr13:65727000-65728400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:65727200-65727400	Active TSS	GM12878-XiMat	blood
38	chr13:65727200-65728200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:65727400-65727800	Enhancers	GM12878-XiMat	blood
40	chr13:65727800-65728600	Weak transcription	GM12878-XiMat	blood
41	chr13:65728200-65728600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:65728600-65729000	Enhancers	GM12878-XiMat	blood
43	chr13:65731400-65732400	Enhancers	HUVEC	blood vessel

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