Variant report

Variant	esv3335389
Chromosome Location	chr16:34878851-34883149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:34878984-34879081	GM12878	blood:	n/a	n/a
2	RUNX3	chr16:34878757-34879205	GM12878	blood:	n/a	n/a
3	ZNF384	chr16:34878886-34879000	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260746	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140966938	chr16:34878855-34878856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs34920468	chr16:34878898-34878899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78174433	chr16:34878899-34878900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs398029223	chr16:34878916-34878917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560505809	chr16:34878949-34878950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548376226	chr16:34878954-34878955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185941323	chr16:34878989-34878990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs578009273	chr16:34878990-34878991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149804878	chr16:34878993-34878994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570600718	chr16:34879018-34879019	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531722758	chr16:34879022-34879023	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530933626	chr16:34879099-34879100	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4887604	chr16:34879105-34879106	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs567935337	chr16:34879113-34879114	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145692425	chr16:34879130-34879131	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552118457	chr16:34879152-34879153	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs148922854	chr16:34879209-34879210	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183918145	chr16:34879210-34879211	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143680538	chr16:34879248-34879249	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557780486	chr16:34879259-34879260	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78094819	chr16:34879270-34879271	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138916909	chr16:34879292-34879293	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536483305	chr16:34879298-34879299	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562000578	chr16:34879304-34879305	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554686280	chr16:34879309-34879310	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141445782	chr16:34879312-34879313	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146971269	chr16:34879318-34879319	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114386137	chr16:34879325-34879326	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576180951	chr16:34879338-34879339	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542459729	chr16:34879361-34879362	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138133668	chr16:34879419-34879420	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528037928	chr16:34879458-34879459	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545858016	chr16:34879467-34879468	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189011465	chr16:34879470-34879471	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537159240	chr16:34879472-34879473	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549886395	chr16:34879491-34879492	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370053225	chr16:34879513-34879514	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529087851	chr16:34879521-34879522	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558547893	chr16:34879546-34879547	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547611335	chr16:34879582-34879583	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540655060	chr16:34879602-34879603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565832840	chr16:34879623-34879624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539749102	chr16:34879637-34879638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190960898	chr16:34879652-34879653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569682813	chr16:34879656-34879657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373539390	chr16:34879661-34879662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141664027	chr16:34879664-34879665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182741111	chr16:34879671-34879672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187302449	chr16:34879697-34879698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542057177	chr16:34879713-34879714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34871400-34880000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:34879000-34879600	Active TSS	Fetal Heart	heart

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