Variant report

Variant	nsv581888
Chromosome Location	chr2:51900836-51927714
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	chr2:51909335..51911785-chr2:51912950..51915647,2	K562	blood:
2	chr2:51909335..51911785-chr2:51912950..51915647,2	K562	blood:
3	chr17:57919582..57921747-chr2:51927078..51928640,2	MCF-7	breast:
4	2:51664217-51674289..2:51908308-51914662	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 364 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6758434	chr2:51900836-51900837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141215933	chr2:51900967-51900968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569641053	chr2:51900977-51900978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569333882	chr2:51900994-51900995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538145841	chr2:51901004-51901005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72890116	chr2:51901006-51901007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116551421	chr2:51901013-51901014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189835922	chr2:51901044-51901045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1400104	chr2:51901085-51901086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78064907	chr2:51901100-51901101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578209644	chr2:51901114-51901115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536753550	chr2:51901151-51901152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554657392	chr2:51901190-51901191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563124283	chr2:51901297-51901298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576430155	chr2:51901312-51901313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1400105	chr2:51901360-51901361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369898995	chr2:51901370-51901371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368876734	chr2:51901383-51901384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139313574	chr2:51901397-51901398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373080228	chr2:51901409-51901410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17864575	chr2:51901411-51901412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144072740	chr2:51901421-51901422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540801706	chr2:51901431-51901432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376408673	chr2:51901504-51901505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182158441	chr2:51901565-51901566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529697953	chr2:51901571-51901572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77683936	chr2:51901577-51901578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372413421	chr2:51901578-51901579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563133075	chr2:51901593-51901594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530554811	chr2:51901601-51901602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186728558	chr2:51901619-51901620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571934767	chr2:51901640-51901641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541376007	chr2:51901656-51901657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561454810	chr2:51901692-51901693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78866393	chr2:51901698-51901699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191172335	chr2:51901710-51901711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566317851	chr2:51901716-51901717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574958795	chr2:51901738-51901739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552714380	chr2:51901779-51901780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544023016	chr2:51901787-51901788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564285248	chr2:51901797-51901798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368998584	chr2:51901825-51901826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555074911	chr2:51901863-51901864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576345875	chr2:51901920-51901921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376483869	chr2:51901961-51901962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537419904	chr2:51901976-51901977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546534718	chr2:51901980-51901981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12104790	chr2:51901987-51901988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529032797	chr2:51901996-51901997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183080494	chr2:51902015-51902016	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Schizophrenia	20967226	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51900000-51902200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:51900400-51901400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:51900400-51901400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:51900600-51901000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:51900600-51901000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:51900600-51901200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:51900600-51901200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:51900600-51901200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:51900800-51901200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:51900800-51901200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:51900800-51901200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:51920600-51920800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:51921200-51922400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:51921800-51922400	Enhancers	Osteobl	bone
15	chr2:51922000-51922200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:51922200-51922800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:51922400-51922800	Weak transcription	Osteobl	bone
18	chr2:51922400-51923800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:51922800-51924600	Enhancers	Osteobl	bone
20	chr2:51922800-51925000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:51923800-51924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:51923800-51924200	Enhancers	Liver	Liver
23	chr2:51924200-51924600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:51924200-51924600	Flanking Active TSS	Liver	Liver
25	chr2:51924200-51924800	Active TSS	A549	lung
26	chr2:51924400-51925000	Enhancers	HepG2	liver
27	chr2:51924400-51925200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:51924600-51926600	Enhancers	Liver	Liver
29	chr2:51924800-51925000	Flanking Active TSS	A549	lung
30	chr2:51924800-51925200	Enhancers	Fetal Intestine Small	intestine
31	chr2:51924800-51926000	Enhancers	Fetal Intestine Large	intestine
32	chr2:51925000-51925200	Active TSS	A549	lung
33	chr2:51925000-51927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:51925200-51925600	Enhancers	A549	lung

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