Variant report

Variant	nsv582226
Chromosome Location	chr2:76605834-76619579
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	chr2:76615182..76615716-chr4:38819540..38820084,2	MCF-7	breast:

Extended variants
information (count: 169 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs908957	chr2:76605834-76605835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577560218	chr2:76605846-76605847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545127607	chr2:76605956-76605957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559950041	chr2:76605966-76605967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148858521	chr2:76605967-76605968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs908958	chr2:76605991-76605992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143484261	chr2:76606038-76606039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11898958	chr2:76606050-76606051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78466445	chr2:76606068-76606069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs908959	chr2:76606093-76606094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs189282417	chr2:76606095-76606096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551857019	chr2:76606101-76606102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368482248	chr2:76606129-76606130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147986088	chr2:76606131-76606132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533755288	chr2:76606132-76606133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548802640	chr2:76606142-76606143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115343792	chr2:76606156-76606157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114348694	chr2:76607218-76607219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149382601	chr2:76607248-76607249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186340715	chr2:76607283-76607284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551553222	chr2:76607320-76607321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375682159	chr2:76607336-76607337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558113351	chr2:76607369-76607370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556834058	chr2:76607380-76607381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578213929	chr2:76607412-76607413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144713404	chr2:76607420-76607421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148509170	chr2:76607477-76607478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527666803	chr2:76607533-76607534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114834085	chr2:76607569-76607570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560999147	chr2:76607584-76607585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531422529	chr2:76607593-76607594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145395829	chr2:76607607-76607608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571403254	chr2:76607618-76607619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147665160	chr2:76607697-76607698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141056259	chr2:76607723-76607724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144908251	chr2:76607731-76607732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536207645	chr2:76607734-76607735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191102599	chr2:76607752-76607753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151306716	chr2:76607754-76607755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140534180	chr2:76607771-76607772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533742173	chr2:76607794-76607795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556510533	chr2:76607799-76607800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578123898	chr2:76607801-76607802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545420583	chr2:76607826-76607827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554000295	chr2:76607847-76607848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571431244	chr2:76607885-76607886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572108502	chr2:76607904-76607905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79639684	chr2:76607996-76607997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561060275	chr2:76608015-76608016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576162293	chr2:76608048-76608049	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76605800-76606200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:76607200-76609200	Enhancers	Fetal Heart	heart
3	chr2:76613000-76613600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:76618200-76619800	Enhancers	Fetal Heart	heart
5	chr2:76618400-76619200	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:76618400-76619400	Enhancers	HepG2	liver
7	chr2:76618600-76619200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:76618600-76619200	Enhancers	Small Intestine	intestine
9	chr2:76618600-76619200	Enhancers	Stomach Mucosa	stomach
10	chr2:76618600-76619400	Enhancers	Fetal Intestine Small	intestine
11	chr2:76618800-76619400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:76619200-76624400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:76619400-76624200	Weak transcription	Fetal Intestine Small	intestine

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