Variant report

Variant	nsv976227
Chromosome Location	chr13:66731801-66738354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530173859	chr13:66733422-66733423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546687482	chr13:66733458-66733459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139269411	chr13:66733483-66733484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117844680	chr13:66733486-66733487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552822979	chr13:66733487-66733488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141891200	chr13:66733560-66733561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558086659	chr13:66733615-66733616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113058762	chr13:66733710-66733711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114760259	chr13:66733723-66733724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145420757	chr13:66733748-66733749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192989670	chr13:66733751-66733752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74494939	chr13:66733776-66733777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561994287	chr13:66733793-66733794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572794191	chr13:66733794-66733795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576377075	chr13:66733806-66733807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549116857	chr13:66733845-66733846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184344778	chr13:66733860-66733861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575579870	chr13:66733934-66733935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1407582	chr13:66733963-66733964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527960307	chr13:66734004-66734005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372263539	chr13:66734214-66734215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547807133	chr13:66734272-66734273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573953702	chr13:66734286-66734287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147697840	chr13:66734302-66734303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541215719	chr13:66734305-66734306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140879576	chr13:66734380-66734381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532521172	chr13:66734388-66734389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149513020	chr13:66734393-66734394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34458909	chr13:66734394-66734395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546730620	chr13:66734404-66734405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552478712	chr13:66734406-66734407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377109224	chr13:66734427-66734428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569232518	chr13:66734444-66734445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61315261	chr13:66734454-66734455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368461858	chr13:66734471-66734472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548384568	chr13:66734479-66734480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78465787	chr13:66734510-66734511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187887017	chr13:66734513-66734514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9599077	chr13:66734535-66734536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376808018	chr13:66734671-66734672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545152852	chr13:66734679-66734680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553026465	chr13:66734684-66734685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10507730	chr13:66734699-66734700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193025737	chr13:66734744-66734745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145839862	chr13:66734761-66734762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111847709	chr13:66734821-66734822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544468902	chr13:66734825-66734826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35317639	chr13:66734846-66734847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539832739	chr13:66734872-66734873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533454150	chr13:66734940-66734941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66733400-66733800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:66733600-66734000	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:66733800-66737400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:66736400-66737600	Enhancers	Dnd41	blood
5	chr13:66736600-66737200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:66737200-66737600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:66737400-66737600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:66737600-66737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:66737800-66738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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