Variant report

Variant	esv2762559
Chromosome Location	chr2:49986201-50076458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49997752..49998563-chr2:50629285..50629956,2	MCF-7	breast:
2	chr2:49997735..49998660-chr2:50371421..50371995,2	MCF-7	breast:
3	chr2:49843797..49844715-chr2:50070161..50071037,2	MCF-7	breast:
4	chr2:50026911..50029881-chr2:50163346..50164873,2	K562	blood:
5	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
6	chr2:49987705..49990073-chr2:50256678..50259583,2	K562	blood:

Extended variants
information (count: 1563 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576942486	chr2:49998025-49998026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540977042	chr2:49998113-49998114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552842479	chr2:49998118-49998119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185673880	chr2:49998154-49998155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542563354	chr2:49998159-49998160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561245110	chr2:49998190-49998191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531794218	chr2:49998191-49998192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189282532	chr2:49998216-49998217	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565502473	chr2:49998224-49998225	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564843389	chr2:49998237-49998238	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532749938	chr2:49998254-49998255	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192549280	chr2:49998255-49998256	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183668667	chr2:49998275-49998276	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529736751	chr2:49998282-49998283	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548135744	chr2:49998292-49998293	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569535981	chr2:49998310-49998311	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs72880499	chr2:49998337-49998338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556920402	chr2:49998338-49998339	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188374748	chr2:49998412-49998413	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570356964	chr2:49998441-49998442	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144008573	chr2:49998442-49998443	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552854874	chr2:49998453-49998454	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574359819	chr2:49998455-49998456	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs542669236	chr2:49998491-49998492	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200484744	chr2:49998499-49998500	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115928708	chr2:49998531-49998532	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181189670	chr2:49998550-49998551	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531974087	chr2:50007809-50007810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57790649	chr2:50007821-50007822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115646448	chr2:50007839-50007840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78313786	chr2:50007849-50007850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548017670	chr2:50007860-50007861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569510434	chr2:50007870-50007871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116949393	chr2:50007910-50007911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192061708	chr2:50007917-50007918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559512808	chr2:50007944-50007945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571618026	chr2:50007975-50007976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371564426	chr2:50007991-50007992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565019223	chr2:50007997-50007998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538625575	chr2:50008001-50008002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113859061	chr2:50008002-50008003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572479623	chr2:50008086-50008087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72882207	chr2:50008111-50008112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555251016	chr2:50008136-50008137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78031070	chr2:50008150-50008151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143789875	chr2:50008176-50008177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562016746	chr2:50008177-50008178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376623971	chr2:50008230-50008231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150541040	chr2:50008267-50008268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79372808	chr2:50008272-50008273	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49998000-49998600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:49998200-49998600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:49998200-49998600	Active TSS	Brain Substantia Nigra	brain
4	chr2:50007800-50008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:50022400-50022600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:50022400-50024200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:50023200-50024200	Enhancers	Dnd41	blood
8	chr2:50023400-50023600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:50025200-50025400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:50025400-50028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:50027800-50029800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:50028200-50028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:50028800-50029200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:50028800-50029600	Enhancers	Fetal Kidney	kidney
15	chr2:50029400-50029800	Enhancers	Fetal Lung	lung
16	chr2:50030200-50032600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:50032200-50032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:50032800-50034400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:50034400-50035600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:50034400-50035800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:50035000-50035200	Enhancers	Fetal Heart	heart
22	chr2:50035400-50036400	Weak transcription	Fetal Heart	heart
23	chr2:50035600-50038800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:50035800-50036200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:50036200-50037200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:50036400-50037200	Enhancers	Brain Angular Gyrus	brain
27	chr2:50036400-50037200	Enhancers	Brain Substantia Nigra	brain
28	chr2:50036400-50037200	Enhancers	Fetal Heart	heart
29	chr2:50036600-50037200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:50036600-50037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:50037200-50038200	Weak transcription	Fetal Heart	heart
32	chr2:50037200-50038800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:50038200-50042000	Enhancers	Fetal Heart	heart
34	chr2:50038800-50041000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:50038800-50041800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:50039400-50039800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:50039600-50041000	Enhancers	Fetal Lung	lung
38	chr2:50039800-50042800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:50040200-50040800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:50040400-50040800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:50040400-50040800	Enhancers	Fetal Stomach	stomach
42	chr2:50042000-50042600	Weak transcription	Fetal Heart	heart
43	chr2:50042600-50042800	Enhancers	Fetal Heart	heart
44	chr2:50054400-50054800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:50054400-50054800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:50054400-50055000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:50054400-50055000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:50054400-50055200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:50054800-50055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:50055200-50056200	Enhancers	Fetal Heart	heart

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