Variant report

Variant	nsv900348
Chromosome Location	chr13:65074137-65193124
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:
2	chr13:65092784..65094622-chr13:65098133..65100650,2	MCF-7	breast:
3	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
4	chr13:65092784..65094622-chr13:65098133..65100650,2	MCF-7	breast:
5	chr13:65158685..65161029-chr13:65163105..65165098,2	MCF-7	breast:
6	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
7	chr13:65144443..65146895-chr13:65148818..65150999,2	MCF-7	breast:
8	chr13:65156439..65158958-chr13:65159138..65160900,2	K562	blood:

No data

Extended variants
information (count: 1289 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113716761	chr13:65076213-65076214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17087930	chr13:65076263-65076264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552667702	chr13:65076270-65076271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375425274	chr13:65076274-65076275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368569525	chr13:65076284-65076285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150720134	chr13:65076320-65076321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183490951	chr13:65076340-65076341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576225597	chr13:65076417-65076418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138995851	chr13:65076481-65076482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188559050	chr13:65076487-65076488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150066424	chr13:65076555-65076556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143898325	chr13:65079412-65079413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374548417	chr13:65079428-65079429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190170673	chr13:65079434-65079435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146365988	chr13:65079470-65079471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181790855	chr13:65079486-65079487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185002091	chr13:65079489-65079490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139659859	chr13:65079535-65079536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545956737	chr13:65079570-65079571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559941883	chr13:65079576-65079577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111495465	chr13:65079595-65079596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572059379	chr13:65079622-65079623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12585469	chr13:65079637-65079638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554759106	chr13:65079705-65079706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565554174	chr13:65079718-65079719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190643089	chr13:65079730-65079731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201935540	chr13:65079736-65079737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550909835	chr13:65079739-65079740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368515895	chr13:65079757-65079758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150015196	chr13:65079771-65079772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548659427	chr13:65079780-65079781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566561746	chr13:65079827-65079828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372054243	chr13:65079840-65079841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17087957	chr13:65079847-65079848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570429388	chr13:65079894-65079895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181827429	chr13:65079909-65079910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558461609	chr13:65079961-65079962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568447203	chr13:65079962-65079963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185458235	chr13:65079975-65079976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558613226	chr13:65079993-65079994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574573605	chr13:65080017-65080018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9528776	chr13:65080064-65080065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199556159	chr13:65080073-65080074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149159909	chr13:65080084-65080085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189770372	chr13:65080146-65080147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545833712	chr13:65080166-65080167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564033661	chr13:65080229-65080230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113053973	chr13:65080248-65080249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9564178	chr13:65080256-65080257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562985190	chr13:65080257-65080258	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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65076200-65076600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:65079400-65080000	Enhancers	Fetal Stomach	stomach
3	chr13:65079400-65080200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:65079600-65080400	Enhancers	NHDF-Ad	bronchial
5	chr13:65080000-65080200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:65084400-65085000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:65096800-65097400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:65097400-65107600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:65098200-65102600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:65099800-65100400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:65100400-65108200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:65101600-65102000	Enhancers	HMEC	breast
13	chr13:65102000-65104200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:65102600-65102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:65102600-65103800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:65102800-65103200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr13:65102800-65104000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:65102800-65104200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:65102800-65104200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:65102800-65104600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:65102800-65104600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:65103200-65108000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr13:65103800-65107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:65104000-65104400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:65104200-65107800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:65104200-65108400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:65104400-65104600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:65104600-65107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr13:65104600-65108200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr13:65104600-65108200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr13:65107600-65109000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:65107800-65109200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr13:65107800-65109200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:65107800-65109400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:65107800-65109600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr13:65108000-65109200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:65108000-65109600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr13:65108200-65109000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:65108200-65109200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr13:65108400-65108600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr13:65108400-65108800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr13:65112200-65113400	Enhancers	NHDF-Ad	bronchial
43	chr13:65112400-65113200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:65112400-65113400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:65113200-65119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:65113400-65114400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:65113400-65114400	Weak transcription	NHDF-Ad	bronchial
48	chr13:65114400-65115600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr13:65114400-65115600	Enhancers	NHDF-Ad	bronchial
50	chr13:65114600-65115400	Enhancers	HUVEC	blood vessel

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