Variant report

Variant	nsv458318
Chromosome Location	chr2:77564243-77603802
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	chr2:77586810..77589359-chr2:77589947..77591519,2	K562	blood:
2	chr2:77586810..77589359-chr2:77589947..77591519,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529701682	chr2:77585401-77585402	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs367608722	chr2:77585405-77585406	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs144459616	chr2:77585447-77585448	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs563405130	chr2:77585454-77585455	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs577707807	chr2:77585466-77585467	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs544989507	chr2:77585495-77585496	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs563229810	chr2:77585551-77585552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs530531110	chr2:77585559-77585560	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs549266477	chr2:77585581-77585582	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566714278	chr2:77590600-77590601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569923481	chr2:77590630-77590631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143021698	chr2:77590636-77590637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371738370	chr2:77590638-77590639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187789056	chr2:77590674-77590675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373751332	chr2:77590675-77590676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527704295	chr2:77590707-77590708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534724323	chr2:77590739-77590740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555020900	chr2:77590740-77590741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192567587	chr2:77590782-77590783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9309514	chr2:77590797-77590798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs557125829	chr2:77590828-77590829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142913218	chr2:77590848-77590849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546069780	chr2:77590976-77590977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553420858	chr2:77591036-77591037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183727520	chr2:77591078-77591079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540689735	chr2:77591090-77591091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560990035	chr2:77591101-77591102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529821813	chr2:77591143-77591144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188465571	chr2:77591151-77591152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563468992	chr2:77591165-77591166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532376904	chr2:77591190-77591191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73941231	chr2:77591205-77591206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565858237	chr2:77591244-77591245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368995055	chr2:77591254-77591255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145245921	chr2:77591255-77591256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79242511	chr2:77591257-77591258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528440363	chr2:77591266-77591267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202033745	chr2:77591268-77591269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200846341	chr2:77591269-77591270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs67315330	chr2:77591270-77591271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58307818	chr2:77591299-77591300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568158764	chr2:77591300-77591301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537147281	chr2:77591301-77591302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557064325	chr2:77591311-77591312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570698911	chr2:77591325-77591326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370378810	chr2:77591326-77591327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184581356	chr2:77591355-77591356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189853365	chr2:77591426-77591427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138190844	chr2:77591444-77591445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181533544	chr2:77591469-77591470	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77585400-77585600	Bivalent Enhancer	Esophagus	oesophagus
2	chr2:77590600-77591200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77590600-77591400	Enhancers	Brain Anterior Caudate	brain
4	chr2:77591200-77591400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:77591200-77591800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:77591400-77591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:77593600-77593800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:77599000-77599200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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