Variant report

Variant	nsv1005392
Chromosome Location	chr2:77391139-77441268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77397835..77400404-chr2:77402017..77403881,2	K562	blood:
2	chr2:77397835..77400404-chr2:77402017..77403881,2	K562	blood:
3	chr2:77426705..77429673-chr2:77438282..77439862,2	K562	blood:
4	chr2:77426705..77429673-chr2:77438282..77439862,2	K562	blood:

Extended variants
information (count: 1101 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560096775	chr2:77398623-77398624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186440250	chr2:77398666-77398667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542534746	chr2:77398691-77398692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191038272	chr2:77398695-77398696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531541664	chr2:77398741-77398742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531154874	chr2:77398745-77398746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183354937	chr2:77398756-77398757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116670756	chr2:77398759-77398760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532094928	chr2:77398764-77398765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113364555	chr2:77398767-77398768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549896453	chr2:77398807-77398808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543673246	chr2:77398899-77398900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568123675	chr2:77398906-77398907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547481884	chr2:77398909-77398910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565703899	chr2:77398910-77398911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536209592	chr2:77398993-77398994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528985513	chr2:77398997-77398998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549711196	chr2:77398999-77399000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567953083	chr2:77399021-77399022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547345149	chr2:77399135-77399136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58939378	chr2:77399136-77399137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556455589	chr2:77399137-77399138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578072236	chr2:77399142-77399143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538770252	chr2:77399165-77399166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553820658	chr2:77399215-77399216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188185540	chr2:77399284-77399285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542571770	chr2:77399356-77399357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560888402	chr2:77399417-77399418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150482339	chr2:77399430-77399431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543636604	chr2:77399433-77399434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564949815	chr2:77399449-77399450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372431311	chr2:77399460-77399461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539704474	chr2:77399489-77399490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541133106	chr2:77399511-77399512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138275275	chr2:77399519-77399520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541965051	chr2:77399541-77399542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570923961	chr2:77399547-77399548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567974852	chr2:77399549-77399550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79797691	chr2:77399583-77399584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550413031	chr2:77399652-77399653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571767194	chr2:77399658-77399659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538799442	chr2:77399673-77399674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553857343	chr2:77399714-77399715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386647573	chr2:77399726-77399727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111390590	chr2:77399727-77399728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13392261	chr2:77399728-77399729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201897450	chr2:77399730-77399731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1030957	chr2:77399732-77399733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543374527	chr2:77399736-77399737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558771801	chr2:77399738-77399739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77398600-77401400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:77401400-77402400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:77402800-77403000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:77403000-77403800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:77403600-77403800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:77403600-77404000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:77403800-77404600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:77403800-77404800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:77404800-77405200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:77412200-77413000	Enhancers	HepG2	liver
11	chr2:77413000-77415200	Weak transcription	HepG2	liver
12	chr2:77415200-77415800	Enhancers	HepG2	liver
13	chr2:77415800-77417600	Weak transcription	HepG2	liver
14	chr2:77417600-77418000	Enhancers	HepG2	liver
15	chr2:77417800-77419200	Enhancers	Liver	Liver
16	chr2:77418000-77418600	Flanking Active TSS	HepG2	liver
17	chr2:77418600-77419200	Enhancers	HepG2	liver
18	chr2:77427000-77427600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:77427600-77435800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:77435400-77435600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:77435600-77436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:77435800-77436000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:77435800-77436400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:77436000-77438600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:77436400-77437800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:77436600-77436800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:77436600-77439000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:77437000-77438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:77437800-77439200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:77438200-77438800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:77438200-77439000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:77438600-77438800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:77438800-77440200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:77439000-77440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:77439200-77441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:77440000-77441600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:77440200-77440600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:77441200-77441600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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