Variant report

Variant	nsv933571
Chromosome Location	chr2:50928632-50988313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
2	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
3	chr2:50946676..50947176-chr20:60981159..60981778,2	MCF-7	breast:
4	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
5	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
6	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:

Extended variants
information (count: 2038 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2038 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547017816	chr2:50928743-50928744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75413867	chr2:50928853-50928854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535806794	chr2:50928875-50928876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9309191	chr2:50928889-50928890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35670555	chr2:50928912-50928913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569540701	chr2:50928972-50928973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190045049	chr2:50928974-50928975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538468248	chr2:50928987-50928988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558062804	chr2:50929019-50929020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551649793	chr2:50929038-50929039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571630555	chr2:50929041-50929042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371534543	chr2:50929060-50929061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572943234	chr2:50929073-50929074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539957645	chr2:50929083-50929084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555401763	chr2:50929101-50929102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573319255	chr2:50929121-50929122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534181110	chr2:50929210-50929211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs858931	chr2:50929229-50929230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562470539	chr2:50929236-50929237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183023736	chr2:50929259-50929260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140143472	chr2:50929280-50929281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571484241	chr2:50929302-50929303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367819816	chr2:50929319-50929320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78831309	chr2:50929385-50929386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188362903	chr2:50929457-50929458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79742499	chr2:50929494-50929495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77078177	chr2:50929495-50929496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398080243	chr2:50929504-50929505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201190555	chr2:50929505-50929506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201849900	chr2:50929506-50929507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529325304	chr2:50929518-50929519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555470901	chr2:50929521-50929522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193263741	chr2:50929543-50929544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142395451	chr2:50929558-50929559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183711365	chr2:50929635-50929636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201337746	chr2:50929645-50929646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558385085	chr2:50929676-50929677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566963520	chr2:50929686-50929687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34515915	chr2:50929688-50929689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397688278	chr2:50929694-50929695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397824068	chr2:50929695-50929696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538577289	chr2:50929741-50929742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555192939	chr2:50929768-50929769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187955187	chr2:50929794-50929795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151329981	chr2:50929806-50929807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77681298	chr2:50929808-50929809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192434851	chr2:50929827-50929828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370239582	chr2:50929910-50929911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563580090	chr2:50930013-50930014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544976873	chr2:50930030-50930031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50916000-50948000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:50919200-50929200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:50924800-50929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:50929000-50929200	Enhancers	Brain Hippocampus Middle	brain
5	chr2:50929200-50929600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:50929200-50930000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:50929200-50930400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:50929400-50929800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:50929600-50930400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:50929800-50930800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:50930000-50935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:50930400-50930800	Enhancers	Brain Hippocampus Middle	brain
13	chr2:50930400-50934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:50930800-50941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:50934200-50935000	Enhancers	Brain Substantia Nigra	brain
16	chr2:50934400-50935000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:50934400-50935000	Enhancers	Brain Germinal Matrix	brain
18	chr2:50934600-50935000	Enhancers	Fetal Brain Male	brain
19	chr2:50934800-50935000	Enhancers	Brain Anterior Caudate	brain
20	chr2:50935000-50936000	Weak transcription	Brain Anterior Caudate	brain
21	chr2:50935000-50939800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:50935000-50947400	Weak transcription	Fetal Brain Male	brain
23	chr2:50935400-50935800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:50935400-50936000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:50936000-50936400	Enhancers	Brain Anterior Caudate	brain
26	chr2:50936000-50936400	Enhancers	Pancreas	Pancrea
27	chr2:50937200-50940600	Enhancers	Liver	Liver
28	chr2:50939600-50939800	Enhancers	Fetal Brain Female	brain
29	chr2:50939800-50942000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:50939800-50947600	Weak transcription	Fetal Brain Female	brain
31	chr2:50940600-50944800	Weak transcription	Liver	Liver
32	chr2:50941000-50942000	Enhancers	Fetal Kidney	kidney
33	chr2:50941400-50942000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:50941600-50945600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:50942000-50943200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:50942000-50947000	Weak transcription	Fetal Kidney	kidney
37	chr2:50942000-50947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:50943200-50944400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:50944400-50946800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:50944800-50945400	Enhancers	Liver	Liver
41	chr2:50945400-50945600	Enhancers	Brain Substantia Nigra	brain
42	chr2:50945400-50945800	Enhancers	Brain Hippocampus Middle	brain
43	chr2:50945400-50946600	Weak transcription	Liver	Liver
44	chr2:50945600-50946000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:50945600-50947400	Weak transcription	Brain Substantia Nigra	brain
46	chr2:50945800-50946000	Enhancers	Brain Anterior Caudate	brain
47	chr2:50945800-50947600	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:50946000-50947200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:50946000-50948000	Weak transcription	Brain Anterior Caudate	brain
50	chr2:50946600-50948600	Enhancers	Liver	Liver

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