Variant report

Variant	esv1824273
Chromosome Location	chr3:85687552-85702868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
2	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
3	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:
4	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:

Extended variants
information (count: 274 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371417117	chr3:85695203-85695204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559137138	chr3:85695208-85695209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150411203	chr3:85695216-85695217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372622680	chr3:85695223-85695224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185659167	chr3:85695264-85695265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556916355	chr3:85695278-85695279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138130247	chr3:85695293-85695294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189320769	chr3:85695367-85695368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368931348	chr3:85695427-85695428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554297701	chr3:85695537-85695538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572547770	chr3:85695565-85695566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540030817	chr3:85695569-85695570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565121803	chr3:85695677-85695678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532230381	chr3:85695685-85695686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569039364	chr3:85695858-85695859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549369790	chr3:85695872-85695873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562452221	chr3:85695947-85695948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551251958	chr3:85695968-85695969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537848500	chr3:85696017-85696018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529632373	chr3:85696164-85696165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571097255	chr3:85696174-85696175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547830958	chr3:85696198-85696199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192646399	chr3:85696215-85696216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527417080	chr3:85696220-85696221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183684770	chr3:85696228-85696229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375940333	chr3:85696246-85696247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58879228	chr3:85696295-85696296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375233030	chr3:85696313-85696314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550454564	chr3:85696317-85696318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568807555	chr3:85696390-85696391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535846915	chr3:85696399-85696400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554236108	chr3:85696466-85696467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572432652	chr3:85696499-85696500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574350880	chr3:85696594-85696595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114160616	chr3:85696663-85696664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188741522	chr3:85696701-85696702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536382222	chr3:85696706-85696707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576929285	chr3:85696708-85696709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372384523	chr3:85696740-85696741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569523009	chr3:85696759-85696760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562439809	chr3:85696785-85696786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574422825	chr3:85696851-85696852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541412479	chr3:85696869-85696870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560061729	chr3:85696902-85696903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527311290	chr3:85696903-85696904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369942294	chr3:85696909-85696910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181121720	chr3:85696943-85696944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149645734	chr3:85696949-85696950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564034035	chr3:85696958-85696959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531929539	chr3:85696974-85696975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85695200-85695400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:85695400-85708800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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