Variant report

Variant	esv3428770
Chromosome Location	chr2:77438744-77440792
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	chr2:77426705..77429673-chr2:77438282..77439862,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551030939	chr2:77438763-77438764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528557480	chr2:77438784-77438785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546693839	chr2:77438817-77438818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138042517	chr2:77438903-77438904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564352467	chr2:77438939-77438940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140190773	chr2:77439014-77439015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533320239	chr2:77439038-77439039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547318790	chr2:77439053-77439054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567045208	chr2:77439065-77439066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181212024	chr2:77439103-77439104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185753364	chr2:77439126-77439127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190555282	chr2:77439201-77439202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183177466	chr2:77439206-77439207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539265845	chr2:77439207-77439208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557886901	chr2:77439217-77439218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572870371	chr2:77439219-77439220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533849099	chr2:77439220-77439221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189160998	chr2:77439288-77439289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573656133	chr2:77439302-77439303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190760187	chr2:77439305-77439306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577604316	chr2:77439322-77439323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376832900	chr2:77439338-77439339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530137946	chr2:77439345-77439346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548532983	chr2:77439398-77439399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34171956	chr2:77439399-77439400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67341069	chr2:77439400-77439401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563982615	chr2:77439446-77439447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72016173	chr2:77439482-77439483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67657668	chr2:77439493-77439494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575849670	chr2:77439549-77439550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546105617	chr2:77439553-77439554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367948629	chr2:77439583-77439584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576390780	chr2:77439584-77439585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564669048	chr2:77439594-77439595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527960619	chr2:77439596-77439597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71420992	chr2:77439598-77439599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183001767	chr2:77439599-77439600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11126594	chr2:77439600-77439601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35907246	chr2:77439601-77439602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1176790	chr2:77439602-77439603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529240030	chr2:77439604-77439605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11884088	chr2:77439621-77439622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532562011	chr2:77439622-77439623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550116327	chr2:77439626-77439627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568814806	chr2:77439637-77439638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12615140	chr2:77439638-77439639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371941369	chr2:77439676-77439677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149487043	chr2:77439677-77439678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187617162	chr2:77439700-77439701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11894888	chr2:77439702-77439703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77436600-77439000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77437800-77439200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:77438200-77438800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:77438200-77439000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:77438600-77438800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:77438800-77440200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:77439000-77440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:77439200-77441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:77440000-77441600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:77440200-77440600	Enhancers	Pancreatic Islets	Pancreatic Islet

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