Variant report

Variant	nsv829186
Chromosome Location	chr2:48744419-48746813
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	chr2:48730893..48733076-chr2:48744799..48747082,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74822154	chr2:48744482-48744483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148767394	chr2:48744483-48744484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189057827	chr2:48744499-48744500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537093235	chr2:48744607-48744608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373704005	chr2:48744608-48744609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192204182	chr2:48744636-48744637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142407926	chr2:48744641-48744642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377594657	chr2:48744798-48744799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555561139	chr2:48744802-48744803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199761176	chr2:48744817-48744818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35917224	chr2:48744818-48744819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577109003	chr2:48744824-48744825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573883155	chr2:48744877-48744878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544177577	chr2:48744903-48744904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184530337	chr2:48744928-48744929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577549890	chr2:48744948-48744949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544731102	chr2:48744969-48744970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111906644	chr2:48744984-48744985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527349185	chr2:48745051-48745052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549173008	chr2:48745100-48745101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529937187	chr2:48745210-48745211	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561275753	chr2:48745218-48745219	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189302821	chr2:48745300-48745301	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547038775	chr2:48745325-48745326	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550194014	chr2:48745349-48745350	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571646219	chr2:48745354-48745355	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192867849	chr2:48745391-48745392	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370980663	chr2:48745403-48745404	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4953590	chr2:48745405-48745406	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563380410	chr2:48745431-48745432	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566187597	chr2:48745460-48745461	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530573003	chr2:48745462-48745463	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113881004	chr2:48745478-48745479	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555648989	chr2:48745500-48745501	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573746765	chr2:48745511-48745512	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538173830	chr2:48745518-48745519	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556162056	chr2:48745547-48745548	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189036794	chr2:48745560-48745561	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75575763	chr2:48745575-48745576	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559676629	chr2:48745600-48745601	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552766797	chr2:48745618-48745619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574328042	chr2:48745660-48745661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112354783	chr2:48745666-48745667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542309856	chr2:48745677-48745678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140210217	chr2:48745725-48745726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531791769	chr2:48745729-48745730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181630079	chr2:48745733-48745734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4641991	chr2:48745736-48745737	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs532814804	chr2:48745761-48745762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186292859	chr2:48745774-48745775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
4	chr2:48723800-48748200	Strong transcription	GM12878-XiMat	blood
5	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:48728200-48756800	Weak transcription	HMEC	breast
7	chr2:48732200-48751400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:48732400-48749600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
10	chr2:48736200-48749400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:48736200-48749400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:48736400-48748400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:48736400-48749600	Strong transcription	Liver	Liver
14	chr2:48736400-48750000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:48736400-48752600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:48736600-48746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:48736600-48749600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:48736600-48749800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:48736800-48747200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:48736800-48749400	Strong transcription	Fetal Thymus	thymus
23	chr2:48736800-48749600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:48737000-48748200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:48737000-48748600	Strong transcription	Dnd41	blood
26	chr2:48737000-48749600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:48737000-48749600	Strong transcription	Brain Anterior Caudate	brain
28	chr2:48737200-48750600	Strong transcription	Fetal Intestine Large	intestine
29	chr2:48737400-48747000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr2:48737600-48744800	Strong transcription	HepG2	liver
31	chr2:48737600-48747000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:48737600-48749800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:48737600-48750200	Strong transcription	Primary T cells from cord blood	blood
34	chr2:48737800-48749400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:48737800-48750000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:48737800-48752000	Strong transcription	Fetal Intestine Small	intestine
37	chr2:48737800-48756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:48738000-48749600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:48738000-48750000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:48738000-48755400	Weak transcription	HUVEC	blood vessel
41	chr2:48738000-48756800	Weak transcription	NH-A	brain
42	chr2:48738200-48746800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:48738200-48753800	Weak transcription	Hela-S3	cervix
44	chr2:48738400-48745600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:48739400-48746000	Strong transcription	A549	lung
46	chr2:48739800-48744600	Weak transcription	Lung	lung
47	chr2:48740000-48754400	Weak transcription	NHLF	lung
48	chr2:48740000-48756000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:48740800-48745200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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