Variant report

Variant	nsv457552
Chromosome Location	chr2:49668973-49790063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
2	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:
3	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:
4	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
5	chr2:49717623..49718402-chr4:155728129..155728848,2	MCF-7	breast:
6	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
7	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
8	chr2:49720297..49721154-chr7:156196377..156197235,2	MCF-7	breast:
9	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:
10	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:

No data

Extended variants
information (count: 636 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565001438	chr2:49670444-49670445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148712022	chr2:49670458-49670459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576534774	chr2:49670459-49670460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540801442	chr2:49670464-49670465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142292006	chr2:49670505-49670506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529882473	chr2:49670534-49670535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151252554	chr2:49670548-49670549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563474748	chr2:49670552-49670553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552329978	chr2:49670575-49670576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185888999	chr2:49670592-49670593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189222392	chr2:49670640-49670641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550201689	chr2:49670657-49670658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181926143	chr2:49670665-49670666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532666023	chr2:49670682-49670683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180746322	chr2:49670695-49670696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547943689	chr2:49670716-49670717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140483782	chr2:49670729-49670730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536489301	chr2:49670733-49670734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555238018	chr2:49670752-49670753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185020486	chr2:49670772-49670773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527449025	chr2:49670784-49670785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536604545	chr2:49670804-49670805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558154318	chr2:49670807-49670808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201531451	chr2:49670870-49670871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111864101	chr2:49670871-49670872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369250850	chr2:49670890-49670891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191211319	chr2:49670928-49670929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560992432	chr2:49670959-49670960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182954640	chr2:49670992-49670993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148336603	chr2:49671000-49671001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541668984	chr2:49671001-49671002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550126273	chr2:49671016-49671017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563551263	chr2:49671027-49671028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570489996	chr2:49671067-49671068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147063240	chr2:49671069-49671070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76197137	chr2:49671104-49671105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565262426	chr2:49671116-49671117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182927253	chr2:49671148-49671149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372517456	chr2:49671185-49671186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147716853	chr2:49671197-49671198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142583817	chr2:49671210-49671211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56039748	chr2:49671247-49671248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548502925	chr2:49671260-49671261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146897936	chr2:49671298-49671299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537366343	chr2:49671305-49671306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370157188	chr2:49671306-49671307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539076696	chr2:49671338-49671339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570093412	chr2:49671341-49671342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534362972	chr2:49671358-49671359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75394665	chr2:49671363-49671364	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49670400-49671600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:49671600-49672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49672800-49673000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:49692400-49692800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:49692600-49699600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:49699400-49700000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:49699600-49700000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:49699600-49700000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:49716400-49717400	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:49728000-49728600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:49743600-49744200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:49789200-49790000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:49789800-49790000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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