Variant report

Variant	nsv817862
Chromosome Location	chr2:49192704-49222572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49199332..49202324-chr2:49209255..49211522,2	K562	blood:
2	chr2:49216778..49218351-chr2:49224131..49226334,2	MCF-7	breast:
3	chr2:49173374..49174210-chr2:49199575..49200403,3	MCF-7	breast:
4	chr2:49199332..49202324-chr2:49209255..49211522,2	K562	blood:
5	chr2:49209751..49211732-chr2:49248932..49250816,2	K562	blood:

Variant related genes	Relation type
ENSG00000170820	chromatin interactions

Extended variants
information (count: 972 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:972 , 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	rs8179692	chr2:49192704-49192705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527812585	chr2:49192777-49192778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369007831	chr2:49192803-49192804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561167575	chr2:49192831-49192832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77721005	chr2:49192837-49192838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78304398	chr2:49192840-49192841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377567991	chr2:49192857-49192858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573967996	chr2:49192898-49192899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539624834	chr2:49193008-49193009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115257945	chr2:49193017-49193018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566558539	chr2:49193071-49193072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537795697	chr2:49193116-49193117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533691756	chr2:49193139-49193140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555448651	chr2:49193144-49193145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573253502	chr2:49193157-49193158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144777135	chr2:49193169-49193170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371061522	chr2:49193172-49193173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577951801	chr2:49193230-49193231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545175316	chr2:49193273-49193274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560571239	chr2:49193296-49193297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572495786	chr2:49193367-49193368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148569809	chr2:49193388-49193389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556423280	chr2:49193392-49193393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2268364	chr2:49193503-49193504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184435788	chr2:49193508-49193509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112036514	chr2:49193509-49193510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372396444	chr2:49193511-49193512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375746667	chr2:49193521-49193522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370352010	chr2:49193527-49193528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147746095	chr2:49193567-49193568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71407536	chr2:49193571-49193572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552547794	chr2:49193581-49193582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562747015	chr2:49193598-49193599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139409773	chr2:49193631-49193632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533309724	chr2:49193661-49193662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551544136	chr2:49193739-49193740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189135996	chr2:49193762-49193763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533994251	chr2:49193774-49193775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548777483	chr2:49193782-49193783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567038826	chr2:49193819-49193820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545237102	chr2:49193854-49193855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373896803	chr2:49193930-49193931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527247523	chr2:49193940-49193941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2300444	chr2:49193958-49193959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145043842	chr2:49193961-49193962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147581530	chr2:49193970-49193971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560771748	chr2:49193983-49193984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539006568	chr2:49193985-49193986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2300443	chr2:49194068-49194069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572503157	chr2:49194089-49194090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49190600-49200400	Weak transcription	Ovary	ovary
2	chr2:49192200-49193200	Enhancers	Liver	Liver
3	chr2:49197000-49197200	Enhancers	Fetal Brain Male	brain
4	chr2:49197800-49198400	Active TSS	Fetal Brain Male	brain
5	chr2:49200400-49200600	Enhancers	Left Ventricle	heart
6	chr2:49201400-49201600	Enhancers	Left Ventricle	heart
7	chr2:49208600-49215600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:49210000-49210400	Enhancers	Brain Germinal Matrix	brain
9	chr2:49210400-49211400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:49210800-49211200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:49217400-49218800	Enhancers	GM12878-XiMat	blood
12	chr2:49218200-49220800	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:49218800-49219200	Flanking Active TSS	GM12878-XiMat	blood
14	chr2:49219200-49220800	Enhancers	Primary B cells from cord blood	blood
15	chr2:49219200-49221600	Enhancers	GM12878-XiMat	blood
16	chr2:49221400-49222000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:49222000-49227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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