Variant report

Variant	esv3405288
Chromosome Location	chr2:58443898-58445046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:
2	chr2:58442084..58444687-chr2:58485328..58487368,2	MCF-7	breast:
3	chr2:58444634..58446465-chr2:58458026..58460794,3	MCF-7	breast:
4	chr2:58442380..58445315-chr2:58458064..58460897,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138092430	chr2:58443915-58443916	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570797875	chr2:58443926-58443927	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62140047	chr2:58443958-58443959	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114576415	chr2:58443985-58443986	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561698548	chr2:58443993-58443994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574976980	chr2:58443996-58443997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143678263	chr2:58444015-58444016	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530819895	chr2:58444041-58444042	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369447345	chr2:58444072-58444073	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554317625	chr2:58444106-58444107	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572681764	chr2:58444167-58444168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546440730	chr2:58444222-58444223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561189122	chr2:58444253-58444254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371223229	chr2:58444280-58444281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373253571	chr2:58444292-58444293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377723951	chr2:58444310-58444311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191453402	chr2:58444314-58444315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59964258	chr2:58444336-58444337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111310548	chr2:58444340-58444341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201266814	chr2:58444350-58444351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368257506	chr2:58444351-58444352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13015123	chr2:58444352-58444353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13015126	chr2:58444354-58444355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186716710	chr2:58444362-58444363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183970225	chr2:58444376-58444377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564747999	chr2:58444483-58444484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576391356	chr2:58444489-58444490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543797551	chr2:58444491-58444492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562291641	chr2:58444517-58444518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529722422	chr2:58444550-58444551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72948876	chr2:58444583-58444584	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112032953	chr2:58444599-58444600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6709460	chr2:58444610-58444611	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150586924	chr2:58444624-58444625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552403517	chr2:58444643-58444644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570765937	chr2:58444666-58444667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538283124	chr2:58444693-58444694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550195741	chr2:58444701-58444702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568594177	chr2:58444747-58444748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188252592	chr2:58444810-58444811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565256161	chr2:58444916-58444917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552442634	chr2:58444923-58444924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199602133	chr2:58444926-58444927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554085451	chr2:58444935-58444936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13422760	chr2:58444950-58444951	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539756273	chr2:58444955-58444956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138652533	chr2:58445036-58445037	Weak transcription Strong transcription	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	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58391000-58467000	Weak transcription	HMEC	breast
3	chr2:58414000-58461400	Weak transcription	NHEK	skin
4	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:58421600-58452400	Weak transcription	NH-A	brain
7	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
8	chr2:58425600-58446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:58425800-58446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:58432000-58445600	Weak transcription	Osteobl	bone
11	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:58433600-58454200	Weak transcription	Gastric	stomach
13	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:58437200-58459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:58437800-58456800	Weak transcription	Fetal Kidney	kidney
16	chr2:58438600-58444000	Strong transcription	A549	lung
17	chr2:58438600-58454200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:58438600-58454200	Weak transcription	Aorta	Aorta
19	chr2:58438600-58454200	Weak transcription	Esophagus	oesophagus
20	chr2:58438600-58454200	Weak transcription	Fetal Brain Female	brain
21	chr2:58438600-58454200	Weak transcription	Fetal Stomach	stomach
22	chr2:58438600-58454200	Weak transcription	Lung	lung
23	chr2:58438600-58454200	Weak transcription	Pancreas	Pancrea
24	chr2:58438600-58454200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:58438600-58454200	Weak transcription	Thymus	Thymus
26	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:58438800-58454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:58438800-58454200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:58439000-58446600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:58439200-58454200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:58439200-58454400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:58439200-58457000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:58439200-58457600	Weak transcription	Placenta	Placenta
35	chr2:58439600-58454200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:58439800-58444200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:58439800-58445200	Weak transcription	Primary T cells from cord blood	blood
38	chr2:58439800-58449200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:58440000-58444200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:58440000-58445400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:58440000-58454200	Weak transcription	Primary B cells from cord blood	blood
42	chr2:58440000-58465000	Weak transcription	Fetal Brain Male	brain
43	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:58440600-58444000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:58440600-58444000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:58440600-58446600	Weak transcription	Fetal Thymus	thymus
47	chr2:58440600-58454200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:58440600-58454400	Weak transcription	HSMM	muscle
49	chr2:58440600-58462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum

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