Variant report

Variant	nsv969968
Chromosome Location	chr5:98640348-98642682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138101632	chr5:98640821-98640822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548256294	chr5:98640829-98640830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142679884	chr5:98640834-98640835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569146637	chr5:98640866-98640867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528346041	chr5:98640904-98640905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188877701	chr5:98640910-98640911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576567277	chr5:98640938-98640939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193235290	chr5:98640942-98640943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184574109	chr5:98640943-98640944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550625570	chr5:98640962-98640963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568828980	chr5:98640984-98640985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536257335	chr5:98640988-98640989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554222558	chr5:98640998-98640999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573528711	chr5:98641013-98641014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534214800	chr5:98641034-98641035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558762735	chr5:98641035-98641036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577002574	chr5:98641049-98641050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188238707	chr5:98641061-98641062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540789465	chr5:98641081-98641082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150499215	chr5:98641146-98641147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563015869	chr5:98641177-98641178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574799852	chr5:98641241-98641242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139465628	chr5:98641267-98641268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542209210	chr5:98641312-98641313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560280983	chr5:98641332-98641333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191094858	chr5:98641333-98641334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149679324	chr5:98641366-98641367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565101632	chr5:98641386-98641387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532367858	chr5:98641390-98641391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7729230	chr5:98641445-98641446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545156909	chr5:98641487-98641488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144492417	chr5:98641551-98641552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116061376	chr5:98641581-98641582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548212359	chr5:98641587-98641588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571775804	chr5:98641590-98641591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184019173	chr5:98641600-98641601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139598174	chr5:98641610-98641611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556383439	chr5:98641611-98641612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145522056	chr5:98641652-98641653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577089275	chr5:98641659-98641660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542119177	chr5:98641690-98641691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34065396	chr5:98641741-98641742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538443742	chr5:98641745-98641746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7733881	chr5:98641755-98641756	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574922088	chr5:98641803-98641804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530932412	chr5:98641804-98641805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541948663	chr5:98641848-98641849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552633458	chr5:98641859-98641860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374798561	chr5:98641886-98641887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147722877	chr5:98641913-98641914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98640800-98641200	Enhancers	Fetal Brain Female	brain
2	chr5:98641000-98641600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:98641000-98641800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:98641200-98641600	Enhancers	Fetal Lung	lung
5	chr5:98641600-98643400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:98641600-98644800	Weak transcription	Fetal Lung	lung
7	chr5:98641800-98643200	Weak transcription	Primary monocytes fromperipheralblood	blood

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