Variant report

Variant	nsv974186
Chromosome Location	chr13:63954921-63962370
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	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:
2	chr13:63955263..63957196-chr13:63958888..63961483,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529780082	chr13:63954930-63954931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61594865	chr13:63954937-63954938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537498600	chr13:63954939-63954940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565794873	chr13:63954949-63954950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534711550	chr13:63954951-63954952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35184679	chr13:63954952-63954953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202015702	chr13:63954957-63954958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369486475	chr13:63954970-63954971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139561692	chr13:63954973-63954974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567781135	chr13:63954979-63954980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149700246	chr13:63954981-63954982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551585519	chr13:63955007-63955008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17088276	chr13:63955039-63955040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577415784	chr13:63955040-63955041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544860017	chr13:63955106-63955107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145498334	chr13:63955115-63955116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139111257	chr13:63955250-63955251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542637871	chr13:63955310-63955311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560807437	chr13:63955328-63955329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76511632	chr13:63955369-63955370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540353203	chr13:63955379-63955380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78833750	chr13:63955382-63955383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533576752	chr13:63955397-63955398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552099247	chr13:63955416-63955417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574470353	chr13:63955450-63955451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547838621	chr13:63955460-63955461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112423777	chr13:63955461-63955462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564036814	chr13:63955464-63955465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180702576	chr13:63955487-63955488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143961540	chr13:63955489-63955490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17088279	chr13:63955566-63955567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs146635934	chr13:63955570-63955571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536981545	chr13:63955581-63955582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571098940	chr13:63955630-63955631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538495744	chr13:63955661-63955662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556819156	chr13:63955694-63955695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186371953	chr13:63955714-63955715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536173801	chr13:63955734-63955735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554522054	chr13:63955736-63955737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572755239	chr13:63955795-63955796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377554288	chr13:63955805-63955806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189744267	chr13:63955890-63955891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578200929	chr13:63955893-63955894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141475571	chr13:63955904-63955905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370911939	chr13:63955979-63955980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577012022	chr13:63955983-63955984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373175899	chr13:63956016-63956017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181656977	chr13:63956017-63956018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549412706	chr13:63956042-63956043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377740992	chr13:63956068-63956069	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63954400-63956000	Enhancers	Dnd41	blood
2	chr13:63955200-63956200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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