Variant report

Variant	nsv581830
Chromosome Location	chr2:49649168-49739361
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

Extended variants
information (count: 742 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187659809	chr2:49649260-49649261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541618776	chr2:49649300-49649301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560024519	chr2:49649312-49649313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1527914	chr2:49649313-49649314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1365856	chr2:49649326-49649327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569509217	chr2:49649329-49649330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538988588	chr2:49649334-49649335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371603347	chr2:49649388-49649389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530514691	chr2:49649396-49649397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112675275	chr2:49649402-49649403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377026287	chr2:49649421-49649422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1365857	chr2:49649433-49649434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs553154033	chr2:49649482-49649483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367648434	chr2:49649490-49649491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs817005	chr2:49649517-49649518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs12616235	chr2:49649560-49649561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144713905	chr2:49649567-49649568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375130638	chr2:49653601-49653602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533143868	chr2:49653629-49653630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540238994	chr2:49653660-49653661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12105450	chr2:49653672-49653673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs185186678	chr2:49653673-49653674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529407271	chr2:49653680-49653681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577526583	chr2:49653690-49653691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386645914	chr2:49653700-49653701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569414302	chr2:49653704-49653705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115639765	chr2:49653707-49653708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28391115	chr2:49653709-49653710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17038785	chr2:49653746-49653747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530602291	chr2:49653759-49653760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551871316	chr2:49653776-49653777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs67353038	chr2:49653789-49653790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188427197	chr2:49653801-49653802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181189490	chr2:49653819-49653820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146892545	chr2:49653842-49653843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112773722	chr2:49653848-49653849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559750722	chr2:49653901-49653902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530049324	chr2:49653909-49653910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140784234	chr2:49653913-49653914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569633674	chr2:49653925-49653926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144577805	chr2:49653959-49653960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559077262	chr2:49653960-49653961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1527886	chr2:49653980-49653981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541638407	chr2:49654020-49654021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553026248	chr2:49654023-49654024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185888147	chr2:49654072-49654073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566538548	chr2:49654075-49654076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191545228	chr2:49654082-49654083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369554642	chr2:49654091-49654092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181634868	chr2:49654131-49654132	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49649200-49649600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr2:49653600-49654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:49654000-49654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:49654000-49655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:49654000-49655200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:49654200-49655000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:49665200-49666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:49665200-49666400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:49665400-49665600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:49665400-49665800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:49666200-49666400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:49670400-49671600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:49671600-49672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:49672800-49673000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:49692400-49692800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:49692600-49699600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:49699400-49700000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:49699600-49700000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:49699600-49700000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:49716400-49717400	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:49728000-49728600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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