Variant report

Variant	esv3692787
Chromosome Location	chr3:68897115-68925972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:67022337..67023183-chr3:68925421..68925921,2	K562	blood:
2	chr3:67159823..67160870-chr3:68924556..68925868,3	MCF-7	breast:
3	chr3:66988494..66989399-chr3:68925421..68925952,2	K562	blood:
4	chr3:67952201..67952773-chr3:68925063..68925992,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563152177	chr3:68904669-68904670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529008475	chr3:68904675-68904676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147925182	chr3:68904678-68904679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573799639	chr3:68904683-68904684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548299370	chr3:68904698-68904699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542670157	chr3:68904722-68904723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3943100	chr3:68904737-68904738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527771652	chr3:68904762-68904763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6797048	chr3:68904763-68904764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs570824443	chr3:68904765-68904766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78281648	chr3:68904779-68904780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556852940	chr3:68904794-68904795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545051271	chr3:68904825-68904826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550903723	chr3:68904827-68904828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189624756	chr3:68904843-68904844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148835442	chr3:68904912-68904913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555453055	chr3:68904921-68904922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143452020	chr3:68904999-68905000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565604178	chr3:68905004-68905005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541098658	chr3:68905047-68905048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569406164	chr3:68905057-68905058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181951944	chr3:68905065-68905066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543315834	chr3:68905072-68905073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563214802	chr3:68905077-68905078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2171871	chr3:68905094-68905095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185908781	chr3:68905142-68905143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559479609	chr3:68905148-68905149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2171870	chr3:68905151-68905152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368645713	chr3:68905152-68905153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561281653	chr3:68905185-68905186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367637060	chr3:68905191-68905192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150919824	chr3:68905212-68905213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13078150	chr3:68905216-68905217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142286652	chr3:68905228-68905229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77310400	chr3:68905274-68905275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116033162	chr3:68905287-68905288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562943503	chr3:68905302-68905303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576459126	chr3:68905310-68905311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549339047	chr3:68905316-68905317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9822138	chr3:68905340-68905341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146116588	chr3:68905368-68905369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557788411	chr3:68905373-68905374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190728653	chr3:68905378-68905379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536617745	chr3:68905387-68905388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111697586	chr3:68905396-68905397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183612384	chr3:68910236-68910237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548621500	chr3:68910254-68910255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561939347	chr3:68910260-68910261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527655086	chr3:68910269-68910270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548123165	chr3:68910305-68910306	Enhancers	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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68904600-68905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:68904600-68905400	Enhancers	HMEC	breast
3	chr3:68904800-68905200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:68910200-68912000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:68910800-68911200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:68924000-68924200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:68925200-68925400	Enhancers	Colon Smooth Muscle	Colon
8	chr3:68925200-68925400	Enhancers	Fetal Kidney	kidney
9	chr3:68925400-68933600	Weak transcription	Colon Smooth Muscle	Colon

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