Variant report

Variant	esv3414990
Chromosome Location	chr3:68828762-68832660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184605689	chr3:68828784-68828785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs553687154	chr3:68828787-68828788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138906965	chr3:68828805-68828806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142839717	chr3:68828806-68828807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150769251	chr3:68828883-68828884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187294056	chr3:68828898-68828899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138013463	chr3:68828925-68828926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111954017	chr3:68828927-68828928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144267640	chr3:68828953-68828954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527260102	chr3:68828980-68828981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547400792	chr3:68829000-68829001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570382005	chr3:68829003-68829004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539261156	chr3:68829013-68829014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191339480	chr3:68829035-68829036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140041212	chr3:68829044-68829045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs183961484	chr3:68829114-68829115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555031476	chr3:68829148-68829149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574761164	chr3:68829154-68829155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534162051	chr3:68829188-68829189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2314316	chr3:68829260-68829261	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146406877	chr3:68829289-68829290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546513597	chr3:68829306-68829307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188324433	chr3:68829333-68829334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551921386	chr3:68829350-68829351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs541585520	chr3:68829370-68829371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571687425	chr3:68829393-68829394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181777224	chr3:68829397-68829398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185778690	chr3:68829416-68829417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554224835	chr3:68829436-68829437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575668727	chr3:68829438-68829439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543007267	chr3:68829489-68829490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs139751547	chr3:68829500-68829501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144460953	chr3:68829512-68829513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549657073	chr3:68829531-68829532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2314317	chr3:68829586-68829587	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557359765	chr3:68829609-68829610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs80263753	chr3:68829626-68829627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74383131	chr3:68829653-68829654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535616562	chr3:68829736-68829737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548408644	chr3:68829738-68829739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567542325	chr3:68829777-68829778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113603128	chr3:68829789-68829790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34285930	chr3:68829862-68829863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571241628	chr3:68829911-68829912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17047991	chr3:68829913-68829914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533805933	chr3:68829968-68829969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540168466	chr3:68830012-68830013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200483667	chr3:68830051-68830052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572580467	chr3:68830052-68830053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78980366	chr3:68830061-68830062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68828600-68828800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr3:68828600-68829200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:68828600-68829800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:68828800-68829200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:68829200-68829600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:68829800-68844000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:68831800-68833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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