Variant report

Variant	esv2760802
Chromosome Location	chr3:68720845-68749351
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	chr1:95699874..95700489-chr3:68738675..68739508,2	HCT-116	colon:
2	chr3:68714555..68717541-chr3:68719964..68722635,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149943954	chr3:68735042-68735043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147613011	chr3:68735044-68735045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142130983	chr3:68735062-68735063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561013652	chr3:68735081-68735082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556911239	chr3:68735103-68735104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186317943	chr3:68735139-68735140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573812179	chr3:68735152-68735153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566800413	chr3:68735167-68735168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550685077	chr3:68735201-68735202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532546495	chr3:68735205-68735206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377685675	chr3:68735207-68735208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146563038	chr3:68735216-68735217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2221394	chr3:68735217-68735218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574895470	chr3:68735234-68735235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574921021	chr3:68735256-68735257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114799480	chr3:68735327-68735328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555234595	chr3:68735338-68735339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568137515	chr3:68735342-68735343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116046799	chr3:68735361-68735362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553831205	chr3:68735397-68735398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1604840	chr3:68735424-68735425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147896003	chr3:68735453-68735454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148933161	chr3:68735474-68735475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191165724	chr3:68735478-68735479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556158032	chr3:68735486-68735487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575948269	chr3:68735521-68735522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541609090	chr3:68735544-68735545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561574891	chr3:68735550-68735551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115559361	chr3:68735567-68735568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540327342	chr3:68735582-68735583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530015664	chr3:68741228-68741229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543521432	chr3:68741244-68741245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113294934	chr3:68741282-68741283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560609220	chr3:68741335-68741336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10718374	chr3:68741356-68741357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75615786	chr3:68741426-68741427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532901608	chr3:68741448-68741449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144443316	chr3:68741467-68741468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569433334	chr3:68741685-68741686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538444525	chr3:68741743-68741744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144546816	chr3:68741776-68741777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191314540	chr3:68742002-68742003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533537460	chr3:68742102-68742103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114655011	chr3:68742189-68742190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577062098	chr3:68742202-68742203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184526772	chr3:68742209-68742210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543229848	chr3:68742223-68742224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539391008	chr3:68742236-68742237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556052061	chr3:68742289-68742290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189138433	chr3:68742341-68742342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68735000-68735600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:68741200-68741600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:68741600-68744000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:68743600-68744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:68744000-68744800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:68744000-68744800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:68748200-68748600	Enhancers	Fetal Lung	lung

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