Variant report

Variant	nsv874023
Chromosome Location	chr2:49662078-49737819
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	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
3	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:
4	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
5	chr2:49717623..49718402-chr4:155728129..155728848,2	MCF-7	breast:
6	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:
7	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:
8	chr2:49720297..49721154-chr7:156196377..156197235,2	MCF-7	breast:

No data

Extended variants
information (count: 624 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:624 , 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	rs143981810	chr2:49665203-49665204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372591696	chr2:49665214-49665215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78542423	chr2:49665250-49665251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565588824	chr2:49665259-49665260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547824268	chr2:49665265-49665266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532894794	chr2:49665277-49665278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370443495	chr2:49665279-49665280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546299397	chr2:49665285-49665286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368436156	chr2:49665287-49665288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530236926	chr2:49665311-49665312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566526522	chr2:49665322-49665323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193057474	chr2:49665373-49665374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560229995	chr2:49665387-49665388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537273642	chr2:49665417-49665418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148658158	chr2:49665420-49665421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76272845	chr2:49665458-49665459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185101494	chr2:49665465-49665466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534278196	chr2:49665476-49665477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142183821	chr2:49665492-49665493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76520374	chr2:49665502-49665503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10176390	chr2:49665533-49665534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2350029	chr2:49665536-49665537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577517267	chr2:49665563-49665564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371819594	chr2:49665570-49665571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372141467	chr2:49665576-49665577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73930865	chr2:49665602-49665603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545722674	chr2:49665614-49665615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188243901	chr2:49665674-49665675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72835197	chr2:49665679-49665680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10165472	chr2:49665706-49665707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368144138	chr2:49665742-49665743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574009459	chr2:49665781-49665782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530149323	chr2:49665789-49665790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532568369	chr2:49665801-49665802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180699808	chr2:49665818-49665819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542752881	chr2:49665846-49665847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563012348	chr2:49665877-49665878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76165528	chr2:49665881-49665882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570763103	chr2:49665882-49665883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4971850	chr2:49665899-49665900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183778485	chr2:49665983-49665984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567697056	chr2:49666011-49666012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535152551	chr2:49666014-49666015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115326329	chr2:49666023-49666024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373415375	chr2:49666059-49666060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112258796	chr2:49666106-49666107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376587614	chr2:49666108-49666109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539575864	chr2:49666232-49666233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181414805	chr2:49666240-49666241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186677783	chr2:49666241-49666242	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:15 , 50 per page) page: 1

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

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