Variant report

Variant	nsv974022
Chromosome Location	chr13:63047223-63057064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 326 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs310974	chr13:63047289-63047290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546632560	chr13:63047303-63047304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13378225	chr13:63047316-63047317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532683264	chr13:63047334-63047335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551288900	chr13:63047342-63047343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569083930	chr13:63047351-63047352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13378226	chr13:63047378-63047379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151199313	chr13:63047379-63047380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564464553	chr13:63047380-63047381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140164812	chr13:63047389-63047390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533887830	chr13:63047421-63047422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372474776	chr13:63047423-63047424	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112354948	chr13:63047441-63047442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546829182	chr13:63047461-63047462	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374837324	chr13:63047492-63047493	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61950046	chr13:63047501-63047502	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73190258	chr13:63047522-63047523	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183456750	chr13:63047552-63047553	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556469306	chr13:63047555-63047556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186704494	chr13:63047604-63047605	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549218565	chr13:63047671-63047672	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191559265	chr13:63047683-63047684	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560394897	chr13:63047727-63047728	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573256020	chr13:63047736-63047737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs117461534	chr13:63047811-63047812	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs310975	chr13:63047836-63047837	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182952977	chr13:63047843-63047844	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571610550	chr13:63047856-63047857	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs550581263	chr13:63047865-63047866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188447517	chr13:63047917-63047918	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs149905483	chr13:63048015-63048016	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs533973234	chr13:63048036-63048037	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548327693	chr13:63048039-63048040	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs310976	chr13:63048072-63048073	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533637035	chr13:63048110-63048111	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552278343	chr13:63048165-63048166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570477675	chr13:63048203-63048204	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537815173	chr13:63048222-63048223	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556206697	chr13:63048253-63048254	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574740169	chr13:63048263-63048264	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529552363	chr13:63048267-63048268	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535798788	chr13:63048287-63048288	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554001876	chr13:63048374-63048375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541056068	chr13:63048386-63048387	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs144871360	chr13:63048410-63048411	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114192619	chr13:63048442-63048443	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577280286	chr13:63048448-63048449	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140839734	chr13:63048459-63048460	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562544660	chr13:63048466-63048467	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530325310	chr13:63048492-63048493	Enhancers Flanking Active TSS 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
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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63046600-63047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:63047200-63047600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:63047200-63048400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:63047200-63048400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:63047200-63048600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:63047400-63047600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:63047400-63047800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:63047400-63048200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:63047600-63047800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:63047600-63048000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr13:63047600-63048200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:63047600-63048400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:63047800-63048200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr13:63047800-63048600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:63047800-63048800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:63048000-63048400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:63048000-63048400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:63048400-63054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:63048800-63049200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:63056800-63057200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:63057000-63057800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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