Variant report

Variant	esv1808238
Chromosome Location	chr2:52126166-52150034
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	2:52132828-52140118..2:52144960-52145427	GM12878	blood:
2	2:51675236-51679533..2:52132828-52140118	GM12878	blood:
3	2:51664217-51674289..2:52132828-52140118	H1-hESC	embryonic stem cell:	embryo
4	2:52132828-52140118..2:52144960-52145427	GM12878	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17864651	chr2:52126166-52126167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531911257	chr2:52126186-52126187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149576698	chr2:52126191-52126192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373434267	chr2:52126265-52126266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547618849	chr2:52126267-52126268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566152397	chr2:52126304-52126305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530049560	chr2:52126368-52126369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548517455	chr2:52126434-52126435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186183542	chr2:52126436-52126437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537307136	chr2:52126457-52126458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545631765	chr2:52126461-52126462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28968188	chr2:52126496-52126497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147301863	chr2:52126513-52126514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552833581	chr2:52126524-52126525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574436034	chr2:52126573-52126574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574942359	chr2:52126620-52126621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541466802	chr2:52126688-52126689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556511906	chr2:52126693-52126694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576345745	chr2:52126704-52126705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190239448	chr2:52126709-52126710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565231931	chr2:52126719-52126720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17864652	chr2:52126727-52126728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182824488	chr2:52126757-52126758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546721083	chr2:52126772-52126773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559593754	chr2:52126777-52126778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12994430	chr2:52126781-52126782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185261826	chr2:52126803-52126804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377134899	chr2:52126836-52126837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570098235	chr2:52126837-52126838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530906282	chr2:52126869-52126870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113424230	chr2:52126874-52126875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189972331	chr2:52126888-52126889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570717763	chr2:52126920-52126921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140913342	chr2:52126923-52126924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546729245	chr2:52126932-52126933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144972511	chr2:52126940-52126941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28965815	chr2:52126965-52126966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556625069	chr2:52126977-52126978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13018140	chr2:52126995-52126996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540445962	chr2:52127027-52127028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548983970	chr2:52127067-52127068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539034075	chr2:52127081-52127082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148576868	chr2:52127124-52127125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142072420	chr2:52127126-52127127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370167786	chr2:52127155-52127156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541286676	chr2:52127158-52127159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377379775	chr2:52127197-52127198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28965816	chr2:52127224-52127225	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74805608	chr2:52127239-52127240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529075020	chr2:52127243-52127244	Enhancers 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52115800-52129400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:52127000-52127400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:52136000-52136400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:52136000-52136600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:52144600-52145600	Enhancers	NHDF-Ad	bronchial
6	chr2:52144600-52147800	Enhancers	Osteobl	bone
7	chr2:52144800-52146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:52144800-52146600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:52144800-52147400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:52144800-52147600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:52144800-52148000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:52145000-52145600	Enhancers	Adipose Nuclei	Adipose
13	chr2:52145400-52146600	Enhancers	HMEC	breast
14	chr2:52145600-52146200	Weak transcription	NHDF-Ad	bronchial
15	chr2:52146200-52147200	Enhancers	NHDF-Ad	bronchial
16	chr2:52146400-52146600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:52146400-52148200	Enhancers	Hela-S3	cervix
18	chr2:52146600-52147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:52147000-52147400	Enhancers	NHLF	lung
20	chr2:52147600-52147800	Enhancers	Adipose Nuclei	Adipose
21	chr2:52147600-52148200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:52147800-52151400	Weak transcription	Osteobl	bone

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