Variant report

Variant	esv1825749
Chromosome Location	chr2:36331825-36353114
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	chr2:36346980..36349018-chr2:36352266..36354440,2	K562	blood:
2	chr2:36346980..36349018-chr2:36352266..36354440,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148174467	chr2:36345609-36345610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141942605	chr2:36345612-36345613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554189424	chr2:36345617-36345618	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541492458	chr2:36345626-36345627	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150676964	chr2:36345644-36345645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571888150	chr2:36345645-36345646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138896070	chr2:36345656-36345657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564031187	chr2:36345658-36345659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141585313	chr2:36345659-36345660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550150438	chr2:36345682-36345683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561907057	chr2:36345702-36345703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529403321	chr2:36345709-36345710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs56391600	chr2:36345738-36345739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547893162	chr2:36345771-36345772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs80001031	chr2:36345782-36345783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146218609	chr2:36345821-36345822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75629918	chr2:36345833-36345834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185571110	chr2:36345888-36345889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537318921	chr2:36345894-36345895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190444338	chr2:36345912-36345913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181633544	chr2:36345915-36345916	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532394782	chr2:36345916-36345917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535201917	chr2:36345918-36345919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139080958	chr2:36345919-36345920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571951561	chr2:36345961-36345962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547799587	chr2:36345972-36345973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545604758	chr2:36345975-36345976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564078874	chr2:36345987-36345988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4670532	chr2:36346005-36346006	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113774755	chr2:36346052-36346053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377471249	chr2:36346067-36346068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537162168	chr2:36346085-36346086	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562147341	chr2:36346172-36346173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529279669	chr2:36346173-36346174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372244407	chr2:36346191-36346192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77354513	chr2:36346239-36346240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559875054	chr2:36346250-36346251	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533423527	chr2:36346267-36346268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527624899	chr2:36346272-36346273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570118921	chr2:36346278-36346279	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537782742	chr2:36346320-36346321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549390239	chr2:36346322-36346323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188653406	chr2:36346328-36346329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535075763	chr2:36346387-36346388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542649494	chr2:36349455-36349456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72867369	chr2:36349462-36349463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531355191	chr2:36349475-36349476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528212075	chr2:36349482-36349483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4670533	chr2:36349485-36349486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564957621	chr2:36349584-36349585	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36345600-36346400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:36349400-36350200	Enhancers	Fetal Brain Male	brain
3	chr2:36350200-36350400	Enhancers	Brain Germinal Matrix	brain
4	chr2:36350200-36354000	Weak transcription	Fetal Brain Male	brain
5	chr2:36350800-36353200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:36352600-36353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:36352600-36353600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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