Variant report

Variant	nsv900346
Chromosome Location	chr13:64999866-65198145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
2	chr13:64974547..64976925-chr13:65002244..65005182,2	K562	blood:
3	chr13:65020257..65021157-chr13:66212532..66213123,2	MCF-7	breast:
4	chr13:65045929..65046727-chr13:66212514..66213321,2	MCF-7	breast:
5	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
6	chr13:65092784..65094622-chr13:65098133..65100650,2	MCF-7	breast:
7	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
8	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
9	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
10	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
11	chr13:65092784..65094622-chr13:65098133..65100650,2	MCF-7	breast:
12	chr13:65064336..65064836-chr7:112019541..112020159,2	MCF-7	breast:

No data

Extended variants
information (count: 2705 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2705 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538536485	chr13:65002228-65002229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529189386	chr13:65002243-65002244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374950994	chr13:65002244-65002245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181239250	chr13:65002259-65002260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540193254	chr13:65002275-65002276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575297963	chr13:65002280-65002281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1417195	chr13:65002293-65002294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185445157	chr13:65002294-65002295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532418841	chr13:65002300-65002301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77796495	chr13:65002306-65002307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574636601	chr13:65002336-65002337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564871250	chr13:65002358-65002359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189127256	chr13:65002378-65002379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545679108	chr13:65002380-65002381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563912347	chr13:65002399-65002400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138178836	chr13:65002404-65002405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17086815	chr13:65002405-65002406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375788663	chr13:65002419-65002420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs864792	chr13:65002513-65002514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs866082	chr13:65002525-65002526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541760569	chr13:65002556-65002557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566815775	chr13:65002560-65002561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143709563	chr13:65002584-65002585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529865794	chr13:65002600-65002601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528581267	chr13:65002605-65002606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17086816	chr13:65002606-65002607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534696412	chr13:65002659-65002660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538547625	chr13:65002663-65002664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181471329	chr13:65002690-65002691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186829979	chr13:65002718-65002719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534837592	chr13:65002728-65002729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569050097	chr13:65002739-65002740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536092102	chr13:65002843-65002844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546959259	chr13:65002903-65002904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572900708	chr13:65002908-65002909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540323656	chr13:65003017-65003018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111555548	chr13:65003045-65003046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146032967	chr13:65003046-65003047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571517710	chr13:65003070-65003071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373200013	chr13:65003074-65003075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563858847	chr13:65003125-65003126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61951420	chr13:65003139-65003140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557187159	chr13:65003142-65003143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371596084	chr13:65003175-65003176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561521418	chr13:65003182-65003183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61951421	chr13:65003196-65003197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192029178	chr13:65003212-65003213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9540087	chr13:65003230-65003231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554787228	chr13:65003246-65003247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532337761	chr13:65003288-65003289	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65002200-65003400	Enhancers	NHDF-Ad	bronchial
2	chr13:65009800-65012400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:65011600-65014800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:65012000-65012800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:65012200-65012600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:65012200-65012600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:65012200-65012600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:65012200-65012800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:65012200-65012800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:65012200-65012800	Enhancers	Fetal Lung	lung
11	chr13:65012200-65013200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:65012400-65012800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:65012400-65012800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:65012400-65012800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:65012600-65014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr13:65012800-65014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:65012800-65014200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:65012800-65014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:65012800-65014200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr13:65012800-65014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:65014000-65014800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:65014200-65014600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:65014200-65014600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:65014200-65014800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr13:65014200-65014800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:65014200-65015000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:65014800-65016000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:65016000-65016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:65021600-65021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:65021800-65038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:65027800-65028400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:65028000-65028400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:65028000-65028400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:65028000-65028400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:65028000-65028400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:65028000-65028400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:65028200-65028400	Enhancers	Fetal Brain Male	brain
38	chr13:65028400-65030200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:65028600-65029600	Weak transcription	Fetal Brain Male	brain
40	chr13:65029600-65030000	Enhancers	Fetal Brain Male	brain
41	chr13:65030000-65030600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:65030000-65030800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:65031600-65033200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:65031600-65033200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:65031800-65032400	Enhancers	NHDF-Ad	bronchial
46	chr13:65032400-65033000	Weak transcription	NHDF-Ad	bronchial
47	chr13:65033000-65033200	Enhancers	NHDF-Ad	bronchial
48	chr13:65042000-65045000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr13:65042200-65044000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:65042400-65045000	Enhancers	HUES48 Cell Line	embryonic stem cell

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