Variant report

Variant	esv1794319
Chromosome Location	chr2:48850299-48857596
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	chr2:48845784..48847693-chr2:48848992..48850627,2	K562	blood:
2	chr2:48837425..48839347-chr2:48846973..48850503,3	K562	blood:

Extended variants
information (count: 315 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191912757	chr2:48850309-48850310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184210154	chr2:48850314-48850315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375889180	chr2:48850345-48850346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185936729	chr2:48850422-48850423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571148150	chr2:48850442-48850443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75074065	chr2:48850465-48850466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189854792	chr2:48850507-48850508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368301166	chr2:48850511-48850512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529876488	chr2:48850581-48850582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554367582	chr2:48850604-48850605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569825285	chr2:48850608-48850609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147699592	chr2:48850623-48850624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370517258	chr2:48850634-48850635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115939296	chr2:48850659-48850660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570475201	chr2:48850669-48850670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547193712	chr2:48850689-48850690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534582948	chr2:48850711-48850712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552819090	chr2:48850745-48850746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568142921	chr2:48850754-48850755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568532276	chr2:48850758-48850759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142502638	chr2:48850769-48850770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77095216	chr2:48850789-48850790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34273250	chr2:48850793-48850794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539769247	chr2:48850798-48850799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536605109	chr2:48850799-48850800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572936692	chr2:48850802-48850803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6545054	chr2:48850814-48850815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562089721	chr2:48850906-48850907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574087049	chr2:48850919-48850920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113150611	chr2:48850926-48850927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563494185	chr2:48850968-48850969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530689730	chr2:48850969-48850970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182555680	chr2:48850971-48850972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564348099	chr2:48850998-48850999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75369096	chr2:48851011-48851012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546563735	chr2:48851024-48851025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567924903	chr2:48851055-48851056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535542047	chr2:48851084-48851085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545695412	chr2:48851098-48851099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560702831	chr2:48851099-48851100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145837992	chr2:48851159-48851160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572667501	chr2:48851160-48851161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115521332	chr2:48851163-48851164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75615048	chr2:48851184-48851185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569239577	chr2:48851199-48851200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149004533	chr2:48851220-48851221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539444478	chr2:48851273-48851274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555734819	chr2:48851287-48851288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187256097	chr2:48851301-48851302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143822810	chr2:48851334-48851335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48831000-48859600	Weak transcription	Ovary	ovary
2	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:48847000-48853000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:48853000-48853400	ZNF genes & repeats	Colon Smooth Muscle	Colon
5	chr2:48853000-48854000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr2:48853400-48853800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:48854000-48873600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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