Variant report

Variant	esv3363955
Chromosome Location	chr2:78948346-78969471
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	chr2:78957735..78959501-chr2:78965066..78967357,2	K562	blood:
2	chr2:78957735..78959501-chr2:78965066..78967357,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201222856	chr2:78948370-78948371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565790859	chr2:78948372-78948373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576897416	chr2:78948401-78948402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192032960	chr2:78948447-78948448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184160838	chr2:78948471-78948472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537327283	chr2:78948497-78948498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557597105	chr2:78948530-78948531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577386162	chr2:78948532-78948533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144618408	chr2:78948541-78948542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74533383	chr2:78948569-78948570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188707895	chr2:78948601-78948602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541077708	chr2:78948634-78948635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78660898	chr2:78948642-78948643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530038512	chr2:78948650-78948651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80230111	chr2:78948707-78948708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75916070	chr2:78948708-78948709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543370161	chr2:78948713-78948714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76813764	chr2:78948729-78948730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532180660	chr2:78948730-78948731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112706447	chr2:78948766-78948767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138566429	chr2:78948779-78948780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182292349	chr2:78961622-78961623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574389464	chr2:78961668-78961669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144303229	chr2:78961682-78961683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556725239	chr2:78961703-78961704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187188937	chr2:78961714-78961715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191647540	chr2:78961758-78961759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35184533	chr2:78961761-78961762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147808550	chr2:78961764-78961765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546489166	chr2:78961797-78961798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75069322	chr2:78961882-78961883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542239847	chr2:78961921-78961922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562393759	chr2:78961931-78961932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576816868	chr2:78961949-78961950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535220613	chr2:78961955-78961956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72812607	chr2:78961967-78961968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551259300	chr2:78962015-78962016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571046536	chr2:78962038-78962039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142521028	chr2:78962168-78962169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184595645	chr2:78962192-78962193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144850358	chr2:78962202-78962203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534364804	chr2:78962247-78962248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188265932	chr2:78962298-78962299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17645640	chr2:78962348-78962349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536965913	chr2:78962350-78962351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530327369	chr2:78962359-78962360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556949837	chr2:78962360-78962361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55869585	chr2:78962366-78962367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545667711	chr2:78962405-78962406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553476538	chr2:78962412-78962413	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78946800-78948600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:78948600-78948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:78961600-78962600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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