Variant report

Variant	esv3347366
Chromosome Location	chr16:35192751-35198749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs200931702	chr16:35194209-35194210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532772617	chr16:35194236-35194237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193110743	chr16:35194238-35194239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138414729	chr16:35194245-35194246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181374425	chr16:35194259-35194260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376407532	chr16:35194270-35194271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548609807	chr16:35194273-35194274	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73550179	chr16:35194275-35194276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373780406	chr16:35194282-35194283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199700616	chr16:35194286-35194287	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566898691	chr16:35194292-35194293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555167605	chr16:35194296-35194297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76737572	chr16:35194302-35194303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552674929	chr16:35194305-35194306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74965547	chr16:35194317-35194318	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76929106	chr16:35194318-35194319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368765143	chr16:35194334-35194335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141872749	chr16:35194346-35194347	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537672697	chr16:35194355-35194356	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555895200	chr16:35194362-35194363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184623669	chr16:35194365-35194366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201251551	chr16:35194386-35194387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574404201	chr16:35194395-35194396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535403064	chr16:35194401-35194402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs202018430	chr16:35194413-35194414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200216583	chr16:35194435-35194436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201283079	chr16:35194437-35194438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553649281	chr16:35194438-35194439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572037996	chr16:35194441-35194442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537584248	chr16:35194443-35194444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112028912	chr16:35194447-35194448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs188246497	chr16:35194468-35194469	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs117049965	chr16:35194489-35194490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576024940	chr16:35194525-35194526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113960381	chr16:35194537-35194538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79268238	chr16:35194539-35194540	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190290974	chr16:35194544-35194545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140772778	chr16:35194552-35194553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77853313	chr16:35194553-35194554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs563029434	chr16:35194555-35194556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530307346	chr16:35194566-35194567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs180728991	chr16:35194578-35194579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181772954	chr16:35197000-35197001	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186524412	chr16:35197006-35197007	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202177616	chr16:35197016-35197017	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200214702	chr16:35197017-35197018	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370807644	chr16:35197026-35197027	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191025307	chr16:35197028-35197029	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201351628	chr16:35197032-35197033	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531026832	chr16:35197036-35197037	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35194200-35194600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:35197000-35197200	Enhancers	Hela-S3	cervix
3	chr16:35197000-35197200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr16:35197000-35197200	ZNF genes & repeats	NH-A	brain
5	chr16:35197200-35201400	Weak transcription	NH-A	brain

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