Variant report

Variant	nsv874098
Chromosome Location	chr2:52207361-52260752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:50763606..50764181-chr2:52224822..52225393,2	MCF-7	breast:
2	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
3	chr2:52239790..52242380-chr2:52244407..52246519,2	K562	blood:
4	chr2:52239790..52242380-chr2:52244407..52246519,2	K562	blood:

Extended variants
information (count: 1481 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1481 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10496004	chr2:52207361-52207362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547528774	chr2:52209006-52209007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563200906	chr2:52209009-52209010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs72882326	chr2:52209033-52209034	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181795296	chr2:52209062-52209063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142555727	chr2:52209107-52209108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527833048	chr2:52209140-52209141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549503436	chr2:52209153-52209154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73930641	chr2:52209179-52209180	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs184763469	chr2:52209197-52209198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564323377	chr2:52209248-52209249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371285915	chr2:52209255-52209256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571282180	chr2:52209307-52209308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538563976	chr2:52209332-52209333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs17042305	chr2:52209368-52209369	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188782614	chr2:52209388-52209389	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs181563103	chr2:52209398-52209399	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372350238	chr2:52214004-52214005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185611349	chr2:52214037-52214038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533709376	chr2:52214066-52214067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150255248	chr2:52214076-52214077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566835593	chr2:52214082-52214083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200305237	chr2:52214093-52214094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190073854	chr2:52214098-52214099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79345456	chr2:52214161-52214162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567287565	chr2:52214187-52214188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373258087	chr2:52214253-52214254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537759451	chr2:52214303-52214304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192905428	chr2:52214354-52214355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571466242	chr2:52214355-52214356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570484530	chr2:52214384-52214385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138889867	chr2:52214393-52214394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139740224	chr2:52217809-52217810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575517947	chr2:52217863-52217864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545747349	chr2:52217890-52217891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188751330	chr2:52217912-52217913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572906775	chr2:52217940-52217941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150052399	chr2:52218004-52218005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539988558	chr2:52218050-52218051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34413571	chr2:52218137-52218138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34093035	chr2:52218141-52218142	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34506844	chr2:52218145-52218146	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145352943	chr2:52218197-52218198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531244142	chr2:52218203-52218204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552547587	chr2:52218274-52218275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571071602	chr2:52218302-52218303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370432788	chr2:52218315-52218316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535221245	chr2:52218328-52218329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547150557	chr2:52218345-52218346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193291086	chr2:52218352-52218353	Enhancers Weak transcription	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
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52207000-52207400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:52209000-52209400	Active TSS	A549	lung
3	chr2:52214000-52214400	Enhancers	Fetal Brain Male	brain
4	chr2:52217800-52218000	Enhancers	Left Ventricle	heart
5	chr2:52217800-52218600	Enhancers	Fetal Heart	heart
6	chr2:52218000-52225800	Weak transcription	Left Ventricle	heart
7	chr2:52218600-52220800	Weak transcription	Fetal Heart	heart
8	chr2:52220800-52222400	Enhancers	NHDF-Ad	bronchial
9	chr2:52220800-52222800	Enhancers	Fetal Heart	heart
10	chr2:52221000-52222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:52221000-52222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:52221000-52222600	Enhancers	NHLF	lung
13	chr2:52221000-52222800	Enhancers	NH-A	brain
14	chr2:52221000-52222800	Enhancers	Osteobl	bone
15	chr2:52221200-52221400	Enhancers	Fetal Brain Male	brain
16	chr2:52221200-52222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:52221200-52222400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:52221200-52222400	Enhancers	Hela-S3	cervix
19	chr2:52221400-52222400	Weak transcription	Fetal Brain Male	brain
20	chr2:52221400-52224200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:52221600-52222400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:52221600-52222800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:52221800-52223800	Enhancers	HUVEC	blood vessel
24	chr2:52222200-52222600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:52222200-52223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:52222400-52222600	Enhancers	Fetal Brain Male	brain
27	chr2:52222400-52223600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:52222400-52223600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:52222400-52223600	Weak transcription	NHDF-Ad	bronchial
30	chr2:52222400-52225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:52222600-52223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:52222600-52223800	Weak transcription	NHLF	lung
33	chr2:52222800-52223200	Weak transcription	NH-A	brain
34	chr2:52222800-52223200	Weak transcription	Osteobl	bone
35	chr2:52222800-52224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:52222800-52225000	Weak transcription	Fetal Heart	heart
37	chr2:52223200-52224200	Enhancers	Osteobl	bone
38	chr2:52223200-52224400	Enhancers	NH-A	brain
39	chr2:52223600-52224200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:52223600-52224400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:52223600-52224400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:52223600-52224400	Enhancers	NHDF-Ad	bronchial
43	chr2:52223800-52224200	Flanking Active TSS	HUVEC	blood vessel
44	chr2:52223800-52224200	Enhancers	NHLF	lung
45	chr2:52223800-52224400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:52224200-52224600	Enhancers	HUVEC	blood vessel
47	chr2:52224200-52227000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:52224200-52227000	Weak transcription	NHLF	lung
49	chr2:52224400-52225800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:52224400-52227000	Weak transcription	NHDF-Ad	bronchial

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