Variant report

Variant	nsv900333
Chromosome Location	chr13:64432922-64546757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:64478683..64481675-chr13:64487598..64489103,2	MCF-7	breast:
2	chr13:64475617..64476410-chr13:64728809..64729366,2	MCF-7	breast:
3	chr13:64478683..64481675-chr13:64487598..64489103,2	MCF-7	breast:
4	chr13:64461452..64464035-chr13:64465171..64467980,2	K562	blood:
5	chr13:64461452..64464035-chr13:64465171..64467980,2	K562	blood:

Extended variants
information (count: 931 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs275913	chr13:64432922-64432923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535589042	chr13:64432934-64432935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186554826	chr13:64432953-64432954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565369746	chr13:64432978-64432979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539626976	chr13:64432991-64432992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368575033	chr13:64432993-64432994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75794941	chr13:64433051-64433052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576304062	chr13:64433055-64433056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77285906	chr13:64433067-64433068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529150620	chr13:64433111-64433112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74474150	chr13:64433118-64433119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573662178	chr13:64433121-64433122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115686098	chr13:64433142-64433143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553026697	chr13:64433166-64433167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77004376	chr13:64433181-64433182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190955436	chr13:64433182-64433183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564486550	chr13:64433227-64433228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146093173	chr13:64433229-64433230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs275914	chr13:64433277-64433278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17089379	chr13:64433309-64433310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs78515316	chr13:64433357-64433358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116935620	chr13:64433383-64433384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547427713	chr13:64433401-64433402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566176865	chr13:64433406-64433407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572209224	chr13:64433407-64433408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34099571	chr13:64433426-64433427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531084075	chr13:64433430-64433431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183951896	chr13:64433471-64433472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554721086	chr13:64433482-64433483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138845504	chr13:64433484-64433485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114460319	chr13:64433487-64433488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567314596	chr13:64433490-64433491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142031304	chr13:64433493-64433494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78835024	chr13:64433510-64433511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577682589	chr13:64433549-64433550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186025768	chr13:64433602-64433603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145703664	chr13:64433605-64433606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74400901	chr13:64433630-64433631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576221441	chr13:64433643-64433644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79354740	chr13:64433650-64433651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111872541	chr13:64433694-64433695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562047517	chr13:64433710-64433711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190880802	chr13:64433758-64433759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374848318	chr13:64433759-64433760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559462105	chr13:64433833-64433834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183019977	chr13:64433834-64433835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113884695	chr13:64433858-64433859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551567050	chr13:64433893-64433894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569905363	chr13:64433947-64433948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2807158	chr13:64433957-64433958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Melanoma	20688739	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64430000-64436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:64431000-64433200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:64432400-64438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:64433200-64438800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:64434000-64434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:64434200-64434600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:64434400-64434800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:64434600-64436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:64438600-64440000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:64438800-64440200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:64479800-64480200	Active TSS	Aorta	Aorta
12	chr13:64483400-64484400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:64483800-64485400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:64484000-64485400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:64484200-64485000	Enhancers	Fetal Muscle Leg	muscle
16	chr13:64484200-64485400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:64484400-64484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:64484600-64484800	Active TSS	Brain Anterior Caudate	brain
19	chr13:64484600-64484800	Active TSS	Brain Cingulate Gyrus	brain
20	chr13:64484600-64485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:64484600-64485000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:64484600-64485000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:64484600-64485000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:64484600-64485000	Enhancers	Fetal Brain Male	brain
25	chr13:64484800-64485000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr13:64484800-64485000	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr13:64485000-64485200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:64485200-64485400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:64494000-64494200	Enhancers	Gastric	stomach
30	chr13:64503000-64503400	Enhancers	Fetal Heart	heart
31	chr13:64512800-64513600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:64513600-64516600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:64515800-64516000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:64516400-64516800	Enhancers	Rectal Smooth Muscle	rectum
35	chr13:64516400-64517000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:64516400-64517400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:64516600-64517000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:64516800-64517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:64517000-64517200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:64517200-64517400	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:64517200-64521600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:64519200-64519600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:64521600-64522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:64521800-64522800	Enhancers	HepG2	liver
45	chr13:64522800-64524600	Weak transcription	HepG2	liver
46	chr13:64524600-64525200	Enhancers	HepG2	liver

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