Variant report

Variant	nsv581924
Chromosome Location	chr2:52335664-52383332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:52357469..52360071-chr20:52739539..52742222,2	MCF-7	breast:
2	chr2:52367783..52370728-chr2:52370744..52372935,2	K562	blood:
3	chr2:52344101..52346354-chr2:52360940..52363061,2	MCF-7	breast:
4	chr2:52367783..52370728-chr2:52370744..52372935,2	K562	blood:
5	chr2:52344101..52346354-chr2:52360940..52363061,2	MCF-7	breast:
6	chr2:52335533..52337278-chr2:52346386..52348387,2	K562	blood:
7	chr2:52335533..52337278-chr2:52346386..52348387,2	K562	blood:

Extended variants
information (count: 990 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2355803	chr2:52335664-52335665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191247963	chr2:52335678-52335679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183046534	chr2:52335679-52335680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569991874	chr2:52335733-52335734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186731643	chr2:52335786-52335787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558789978	chr2:52335806-52335807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373344641	chr2:52335898-52335899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190770133	chr2:52335918-52335919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138849702	chr2:52335937-52335938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569444225	chr2:52339054-52339055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141236500	chr2:52339086-52339087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557937772	chr2:52339101-52339102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533732175	chr2:52339141-52339142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534048619	chr2:52339151-52339152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191558532	chr2:52339169-52339170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567526145	chr2:52339171-52339172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138894409	chr2:52339177-52339178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536173796	chr2:52339193-52339194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369051519	chr2:52339199-52339200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544271044	chr2:52339207-52339208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562848663	chr2:52339211-52339212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140498026	chr2:52339212-52339213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375119659	chr2:52339255-52339256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150714303	chr2:52339256-52339257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74593518	chr2:52339271-52339272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576136651	chr2:52339286-52339287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371981193	chr2:52339297-52339298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560406911	chr2:52339312-52339313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538493629	chr2:52339430-52339431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527456589	chr2:52339434-52339435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150467546	chr2:52339440-52339441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182093780	chr2:52339469-52339470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115661332	chr2:52339511-52339512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561889351	chr2:52339543-52339544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531380818	chr2:52339608-52339609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549512255	chr2:52339618-52339619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570867723	chr2:52339666-52339667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4971790	chr2:52339683-52339684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112285937	chr2:52339728-52339729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138278243	chr2:52339885-52339886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527779150	chr2:52339897-52339898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200047185	chr2:52339899-52339900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372760087	chr2:52339914-52339915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555870336	chr2:52339929-52339930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574047553	chr2:52339960-52339961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117965627	chr2:52339967-52339968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149601935	chr2:52339979-52339980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578046637	chr2:52339996-52339997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544523908	chr2:52339997-52339998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185159127	chr2:52339998-52339999	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52335000-52336000	Enhancers	HMEC	breast
2	chr2:52335600-52336000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:52339000-52341000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:52339000-52341400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:52339400-52340600	Enhancers	Osteobl	bone
6	chr2:52340400-52341600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:52340600-52344400	Weak transcription	Osteobl	bone
8	chr2:52341400-52344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:52341600-52344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:52342600-52343000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:52342600-52343200	Enhancers	NHDF-Ad	bronchial
12	chr2:52342800-52343000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:52343200-52344200	Weak transcription	NHDF-Ad	bronchial
14	chr2:52343200-52347200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:52344000-52344600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:52344200-52344400	Enhancers	NHDF-Ad	bronchial
17	chr2:52344200-52344600	Enhancers	Adipose Nuclei	Adipose
18	chr2:52344200-52345200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:52344400-52345000	Enhancers	Osteobl	bone
20	chr2:52344600-52346400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:52345000-52355000	Weak transcription	Osteobl	bone
22	chr2:52347200-52350600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:52347400-52347800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:52350600-52354400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:52352800-52353000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:52353200-52354200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:52353600-52355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:52354200-52355000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:52354200-52355600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:52354200-52355600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:52354400-52355600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:52354800-52355200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:52354800-52355400	Enhancers	NHLF	lung
34	chr2:52354800-52355600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:52355000-52355800	Enhancers	Osteobl	bone
36	chr2:52362200-52363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:52366600-52367200	Enhancers	Fetal Brain Female	brain
38	chr2:52366600-52367600	Enhancers	Fetal Brain Male	brain
39	chr2:52367600-52368000	Weak transcription	Fetal Brain Male	brain
40	chr2:52367600-52368600	Enhancers	Fetal Heart	heart
41	chr2:52367800-52368400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:52368000-52368400	Enhancers	Fetal Brain Male	brain
43	chr2:52368400-52372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:52370400-52371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:52370400-52372400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:52370400-52372400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:52372000-52372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:52373000-52373400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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