Variant report

Variant	esv2596143
Chromosome Location	chr2:58203672-58207014
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	chr2:58199246..58201497-chr2:58205167..58207158,2	K562	blood:
2	chr2:58202481..58205447-chr2:58273853..58275845,2	K562	blood:

Variant related genes	Relation type
ENSG00000028116	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554555141	chr2:58203679-58203680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557347132	chr2:58203715-58203716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375054876	chr2:58203738-58203739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191104270	chr2:58203747-58203748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111851658	chr2:58203764-58203765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538521869	chr2:58203920-58203921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565025927	chr2:58204055-58204056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368655501	chr2:58204066-58204067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555467706	chr2:58204136-58204137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11904808	chr2:58204194-58204195	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529893113	chr2:58204256-58204257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544799822	chr2:58204279-58204280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545805380	chr2:58204281-58204282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560105212	chr2:58204304-58204305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527716405	chr2:58204306-58204307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558847188	chr2:58204317-58204318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552371443	chr2:58204348-58204349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572125726	chr2:58204354-58204355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531730215	chr2:58204384-58204385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372419614	chr2:58204419-58204420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550306569	chr2:58204480-58204481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541264755	chr2:58204531-58204532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568670865	chr2:58204536-58204537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536149966	chr2:58204542-58204543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182171092	chr2:58204562-58204563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34649522	chr2:58204589-58204590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186896051	chr2:58204605-58204606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368613041	chr2:58204673-58204674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533797769	chr2:58204685-58204686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558289790	chr2:58204713-58204714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74480281	chr2:58204718-58204719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12463540	chr2:58204737-58204738	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562912725	chr2:58204818-58204819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556321029	chr2:58204833-58204834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369071886	chr2:58204885-58204886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541708111	chr2:58204886-58204887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191352837	chr2:58204947-58204948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540522887	chr2:58204953-58204954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527604792	chr2:58204954-58204955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532016640	chr2:58204964-58204965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546160929	chr2:58204975-58204976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560861370	chr2:58205013-58205014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148879565	chr2:58205014-58205015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183161811	chr2:58205034-58205035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76641980	chr2:58205079-58205080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72808488	chr2:58205110-58205111	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562513657	chr2:58205225-58205226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550050642	chr2:58205228-58205229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528669789	chr2:58205241-58205242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188635500	chr2:58205252-58205253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58201000-58212200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:58206400-58206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:58206400-58207000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:58206400-58207000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:58206600-58207000	Enhancers	HUES48 Cell Line	embryonic stem cell

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