Variant report

Variant	esv1011180
Chromosome Location	chr3:68738940-68749025
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:

Extended variants
information (count: 88 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530015664	chr3:68741228-68741229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543521432	chr3:68741244-68741245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113294934	chr3:68741282-68741283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560609220	chr3:68741335-68741336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10718374	chr3:68741356-68741357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75615786	chr3:68741426-68741427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532901608	chr3:68741448-68741449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144443316	chr3:68741467-68741468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569433334	chr3:68741685-68741686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538444525	chr3:68741743-68741744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144546816	chr3:68741776-68741777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191314540	chr3:68742002-68742003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533537460	chr3:68742102-68742103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114655011	chr3:68742189-68742190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577062098	chr3:68742202-68742203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184526772	chr3:68742209-68742210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543229848	chr3:68742223-68742224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539391008	chr3:68742236-68742237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556052061	chr3:68742289-68742290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189138433	chr3:68742341-68742342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142875321	chr3:68742565-68742566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151050479	chr3:68742635-68742636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541645533	chr3:68742640-68742641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554732902	chr3:68742650-68742651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192833073	chr3:68742795-68742796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111885452	chr3:68742802-68742803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535304968	chr3:68742838-68742839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560573982	chr3:68742864-68742865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558476083	chr3:68742869-68742870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146888427	chr3:68742879-68742880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185415285	chr3:68742901-68742902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76091249	chr3:68742922-68742923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563193749	chr3:68743020-68743021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542890596	chr3:68743157-68743158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531904778	chr3:68743162-68743163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1995502	chr3:68743217-68743218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34922704	chr3:68743252-68743253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548797397	chr3:68743253-68743254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140704640	chr3:68743272-68743273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527430935	chr3:68743313-68743314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202230394	chr3:68743331-68743332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113926475	chr3:68743340-68743341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116054588	chr3:68743341-68743342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145842770	chr3:68743362-68743363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570075879	chr3:68743363-68743364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539052280	chr3:68743411-68743412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556012001	chr3:68743466-68743467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370224058	chr3:68743473-68743474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138278173	chr3:68743533-68743534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531485772	chr3:68743593-68743594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

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

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