Variant report

Variant	nsv900907
Chromosome Location	chr13:93472377-93597799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:93495939..93498709-chr13:93498716..93500691,2	MCF-7	breast:
2	chr13:93495939..93498709-chr13:93498716..93500691,2	MCF-7	breast:

Extended variants
information (count: 1155 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10467334	chr13:93472377-93472378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568505343	chr13:93472378-93472379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74481761	chr13:93472387-93472388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187355275	chr13:93472463-93472464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192143397	chr13:93472515-93472516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531792963	chr13:93472539-93472540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548699390	chr13:93472578-93472579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568612076	chr13:93472579-93472580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529885263	chr13:93472615-93472616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372589761	chr13:93472774-93472775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546507693	chr13:93472797-93472798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566733603	chr13:93472811-93472812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538574992	chr13:93472823-93472824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558093022	chr13:93472826-93472827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116133786	chr13:93472832-93472833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs989237	chr13:93472864-93472865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554232912	chr13:93472893-93472894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574480121	chr13:93472937-93472938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146843340	chr13:93473043-93473044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs989236	chr13:93473049-93473050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185069072	chr13:93473111-93473112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546529544	chr13:93473158-93473159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190320374	chr13:93473168-93473169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140687477	chr13:93473171-93473172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531729469	chr13:93473180-93473181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542278823	chr13:93473254-93473255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369848566	chr13:93473258-93473259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6492628	chr13:93473273-93473274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527806319	chr13:93473387-93473388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546742785	chr13:93473399-93473400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377662019	chr13:93473470-93473471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566560190	chr13:93473500-93473501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566393929	chr13:93473531-93473532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532386033	chr13:93473576-93473577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192761105	chr13:93473584-93473585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558390609	chr13:93473588-93473589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144673334	chr13:93473600-93473601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146696773	chr13:93473634-93473635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115026325	chr13:93473648-93473649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537637264	chr13:93473670-93473671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141512578	chr13:93473824-93473825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533665411	chr13:93473837-93473838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184172498	chr13:93473852-93473853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528416519	chr13:93473859-93473860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577363072	chr13:93473868-93473869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546460393	chr13:93473869-93473870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148813497	chr13:93473935-93473936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9561169	chr13:93476469-93476470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs67558042	chr13:93476493-93476494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140985330	chr13:93476503-93476504	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93471600-93472400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:93472400-93473400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:93473400-93473800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:93473400-93473800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:93473600-93474000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:93476400-93476800	Enhancers	Gastric	stomach
7	chr13:93478200-93478800	Enhancers	Ovary	ovary
8	chr13:93478400-93478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr13:93478800-93479800	Weak transcription	Ovary	ovary
10	chr13:93479600-93480200	Enhancers	HMEC	breast
11	chr13:93479800-93480000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:93479800-93480400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:93480000-93480200	Enhancers	Ovary	ovary
14	chr13:93480000-93481400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:93481400-93482400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:93482400-93482800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:93482600-93483400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:93482800-93483400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:93490400-93491800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:93490400-93491800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:93490600-93491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:93490800-93491000	Enhancers	HMEC	breast
23	chr13:93490800-93491200	Enhancers	HSMM	muscle
24	chr13:93490800-93491600	Enhancers	NH-A	brain
25	chr13:93490800-93491800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:93490800-93491800	Enhancers	Osteobl	bone
27	chr13:93490800-93492000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:93491200-93491600	Weak transcription	HSMM	muscle
29	chr13:93491400-93491800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:93491400-93491800	Enhancers	HMEC	breast
31	chr13:93491600-93491800	Enhancers	HSMM	muscle
32	chr13:93491600-93494000	Weak transcription	NH-A	brain
33	chr13:93491800-93492400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:93491800-93494000	Weak transcription	HMEC	breast
35	chr13:93491800-93494000	Weak transcription	HSMM	muscle
36	chr13:93491800-93494000	Weak transcription	Osteobl	bone
37	chr13:93492400-93493000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:93493000-93493800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:93493800-93494200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:93494000-93494200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:93494000-93494600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:93494000-93494600	Enhancers	HSMM	muscle
43	chr13:93494000-93494800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:93494000-93494800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:93494000-93495200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:93494000-93495600	Enhancers	NH-A	brain
47	chr13:93494000-93496400	Enhancers	HMEC	breast
48	chr13:93494000-93496400	Enhancers	Osteobl	bone
49	chr13:93494000-93496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:93494200-93494400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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