Variant report

Variant	esv3395234
Chromosome Location	chr2:51985648-51990546
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	2:51681598-51686731..2:51983874-51990011	GM12878	blood:
2	2:51664217-51674289..2:51983874-51990011	GM12878	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:51989227-51989312	ENSG00000231918.1

Extended variants
information (count: 67 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560258023	chr2:51985656-51985657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145548651	chr2:51985729-51985730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4971575	chr2:51985735-51985736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372562600	chr2:51985755-51985756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556269995	chr2:51985764-51985765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145421112	chr2:51985769-51985770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35161129	chr2:51985778-51985779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536142519	chr2:51985786-51985787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542815907	chr2:51986637-51986638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560786376	chr2:51986645-51986646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148301134	chr2:51986720-51986721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28965176	chr2:51986725-51986726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190130078	chr2:51986762-51986763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375870414	chr2:51986807-51986808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574177020	chr2:51986856-51986857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567161762	chr2:51986887-51986888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2176221	chr2:51986989-51986990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182225173	chr2:51987003-51987004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187297205	chr2:51987023-51987024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538379291	chr2:51987026-51987027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556589989	chr2:51987047-51987048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28965177	chr2:51987053-51987054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539039563	chr2:51987086-51987087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28965178	chr2:51987111-51987112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180875721	chr2:51987116-51987117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542429658	chr2:51987152-51987153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554783894	chr2:51987167-51987168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576047027	chr2:51987185-51987186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17864601	chr2:51987203-51987204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184880632	chr2:51987204-51987205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28965179	chr2:51987205-51987206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531938855	chr2:51987207-51987208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545786454	chr2:51987252-51987253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540638919	chr2:51987254-51987255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569883156	chr2:51987281-51987282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397825810	chr2:51987292-51987293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28965181	chr2:51987293-51987294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11563264	chr2:51987301-51987302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139951575	chr2:51987339-51987340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35750267	chr2:51987390-51987391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145589927	chr2:51987413-51987414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150673385	chr2:51987436-51987437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571779849	chr2:51987444-51987445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28965182	chr2:51987447-51987448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574698007	chr2:51987450-51987451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562197750	chr2:51987463-51987464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547791655	chr2:51987482-51987483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28965183	chr2:51987508-51987509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538870108	chr2:51987520-51987521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190132284	chr2:51987565-51987566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51984400-51985800	Enhancers	Hela-S3	cervix
2	chr2:51986600-51987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:51987200-51987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:51987800-51988000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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