Variant report

Variant	nsv963230
Chromosome Location	chr2:48057165-48059438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48055770..48058382-chr2:48064164..48065669,2	K562	blood:
2	chr2:48009852..48011879-chr2:48057510..48059313,2	K562	blood:
3	chr2:48057040..48058968-chr2:48060499..48062029,2	MCF-7	breast:
4	chr2:48036517..48039271-chr2:48058001..48060870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	chromatin interactions
ENSG00000116062	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 83 )

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	rs531474906	chr2:48057201-48057202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543610213	chr2:48057208-48057209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561538139	chr2:48057236-48057237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564892310	chr2:48057248-48057249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532682191	chr2:48057273-48057274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547909689	chr2:48057278-48057279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75542230	chr2:48057288-48057289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530101725	chr2:48057292-48057293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548568755	chr2:48057314-48057315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74445052	chr2:48057320-48057321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74652085	chr2:48057340-48057341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375951316	chr2:48057400-48057401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142999237	chr2:48057421-48057422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574315714	chr2:48057448-48057449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571772084	chr2:48057489-48057490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542234459	chr2:48057510-48057511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549022523	chr2:48057517-48057518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540063619	chr2:48057527-48057528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116477327	chr2:48057557-48057558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543345643	chr2:48057561-48057562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111997303	chr2:48057602-48057603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568859150	chr2:48057617-48057618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532188410	chr2:48057636-48057637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541573767	chr2:48057651-48057652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374412948	chr2:48057654-48057655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530189742	chr2:48057702-48057703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191912756	chr2:48057743-48057744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184159192	chr2:48057798-48057799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185201822	chr2:48057807-48057808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189906684	chr2:48057815-48057816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571057415	chr2:48057835-48057836	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556647548	chr2:48057841-48057842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182507463	chr2:48057842-48057843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565436516	chr2:48057874-48057875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187172107	chr2:48057914-48057915	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76276193	chr2:48057927-48057928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57375355	chr2:48057959-48057960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554593206	chr2:48058060-48058061	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369787002	chr2:48058069-48058070	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575947301	chr2:48058082-48058083	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs367954630	chr2:48058084-48058085	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs191918670	chr2:48058158-48058159	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373531986	chr2:48058173-48058174	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558558370	chr2:48058174-48058175	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183373675	chr2:48058176-48058177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188779867	chr2:48058179-48058180	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7573024	chr2:48058198-48058199	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146122109	chr2:48058222-48058223	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115326853	chr2:48058233-48058234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35866944	chr2:48058255-48058256	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48021400-48067600	Strong transcription	Dnd41	blood
3	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:48030200-48067600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:48030400-48067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:48030800-48067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:48030800-48067000	Strong transcription	Fetal Thymus	thymus
9	chr2:48031000-48067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:48031000-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:48031000-48067200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:48031200-48065800	Strong transcription	Liver	Liver
13	chr2:48031200-48066800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:48031400-48060600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:48031400-48066800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:48031400-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:48031400-48067800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:48031400-48067800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:48031400-48072600	Weak transcription	Stomach Mucosa	stomach
20	chr2:48032000-48058000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:48032200-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:48032400-48066800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:48032400-48068400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:48033600-48067000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:48033800-48067400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:48036000-48067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:48038000-48061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:48038200-48071400	Weak transcription	Fetal Heart	heart
29	chr2:48038400-48066600	Strong transcription	Adipose Nuclei	Adipose
30	chr2:48039800-48059600	Weak transcription	Psoas Muscle	Psoas
31	chr2:48040400-48068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:48042000-48067800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:48043200-48066800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
35	chr2:48043600-48060800	Weak transcription	Esophagus	oesophagus
36	chr2:48043600-48067000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:48044800-48071000	Weak transcription	Fetal Brain Male	brain
38	chr2:48045000-48059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:48045800-48071600	Weak transcription	Aorta	Aorta
40	chr2:48046200-48059000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:48047800-48067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:48048200-48061800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:48048200-48072400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:48048400-48070000	Weak transcription	Small Intestine	intestine
45	chr2:48048600-48059000	Weak transcription	K562	blood
46	chr2:48048600-48062200	Weak transcription	Brain Angular Gyrus	brain
47	chr2:48048600-48063200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:48048600-48080600	Weak transcription	NHLF	lung
49	chr2:48049200-48062200	Weak transcription	HSMMtube	muscle
50	chr2:48049200-48063200	Weak transcription	Colonic Mucosa	Colon

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