Variant report

Variant	esv1816072
Chromosome Location	chr2:57844545-57859236
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	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:
2	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:

Extended variants
information (count: 417 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13030292	chr2:57844545-57844546	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551015322	chr2:57844570-57844571	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530128545	chr2:57844584-57844585	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145952668	chr2:57844615-57844616	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551204311	chr2:57844632-57844633	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540692364	chr2:57844651-57844652	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572981784	chr2:57844670-57844671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542896576	chr2:57844680-57844681	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535626338	chr2:57844729-57844730	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555239753	chr2:57844731-57844732	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188688117	chr2:57844751-57844752	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78736324	chr2:57844785-57844786	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111516754	chr2:57844810-57844811	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563746361	chr2:57844825-57844826	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577206645	chr2:57844859-57844860	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116509735	chr2:57844871-57844872	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559973870	chr2:57844947-57844948	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376509062	chr2:57844957-57844958	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372840255	chr2:57844977-57844978	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562235256	chr2:57844991-57844992	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs13405187	chr2:57845015-57845016	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1405826	chr2:57845016-57845017	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114857168	chr2:57845075-57845076	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370730020	chr2:57845117-57845118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533338273	chr2:57845135-57845136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376188725	chr2:57845160-57845161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566777958	chr2:57845170-57845171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181470334	chr2:57845171-57845172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148768773	chr2:57845231-57845232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs568669235	chr2:57845239-57845240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571234960	chr2:57845310-57845311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187169059	chr2:57845321-57845322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191938480	chr2:57845328-57845329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs72800618	chr2:57845396-57845397	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375024257	chr2:57845403-57845404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553455190	chr2:57845430-57845431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs367695593	chr2:57845487-57845488	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573501536	chr2:57845508-57845509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1852563	chr2:57845547-57845548	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562311041	chr2:57845551-57845552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142423858	chr2:57845592-57845593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544746836	chr2:57845627-57845628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564557617	chr2:57845663-57845664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533238501	chr2:57845759-57845760	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546997119	chr2:57845771-57845772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566708276	chr2:57845778-57845779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182227904	chr2:57845793-57845794	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548853857	chr2:57845819-57845820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570146980	chr2:57845822-57845823	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568755751	chr2:57845857-57845858	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57844200-57845000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:57844400-57844600	Flanking Active TSS	Fetal Thymus	thymus
3	chr2:57844400-57844600	Flanking Active TSS	Thymus	Thymus
4	chr2:57844400-57844800	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:57844400-57844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:57844600-57846400	Active TSS	Fetal Thymus	thymus
7	chr2:57844600-57846400	Active TSS	Thymus	Thymus
8	chr2:57846400-57846600	Enhancers	Fetal Thymus	thymus
9	chr2:57846600-57855400	Weak transcription	Fetal Thymus	thymus
10	chr2:57846800-57849600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:57848400-57848600	Enhancers	Brain Germinal Matrix	brain
12	chr2:57848400-57849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:57848400-57850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:57848800-57849800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:57848800-57850000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:57848800-57850000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:57848800-57850000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:57849000-57849800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:57849000-57850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:57849200-57849400	Enhancers	Brain Germinal Matrix	brain
21	chr2:57849200-57849600	Enhancers	Fetal Heart	heart
22	chr2:57849600-57850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:57849800-57850200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:57850000-57851800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:57850000-57851800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:57850600-57851400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:57851800-57852600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:57851800-57852600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:57855400-57855600	Enhancers	Fetal Thymus	thymus

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