Variant report

Variant	esv3429052
Chromosome Location	chr16:35131705-35136587
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	CTCF	chr16:35135074-35135169	MCF-7	breast:	n/a	n/a
2	CTCF	chr16:35135074-35135181	Gliobla	brain:	n/a	n/a
3	CTCF	chr16:35135980-35136130	GM12870	blood:	n/a	n/a
4	CTCF	chr16:35135087-35135167	MCF-7	breast:	n/a	n/a
5	CTCF	chr16:35135039-35135189	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221580	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541888791	chr16:35131705-35131706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143730619	chr16:35131728-35131729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147219796	chr16:35131756-35131757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530687927	chr16:35131762-35131763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575849386	chr16:35131780-35131781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36170394	chr16:35131791-35131792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549219801	chr16:35131836-35131837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567543522	chr16:35131902-35131903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534950174	chr16:35131916-35131917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552682115	chr16:35131939-35131940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185535822	chr16:35131951-35131952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7201816	chr16:35131962-35131963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72814871	chr16:35132006-35132007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7197730	chr16:35132050-35132051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372387076	chr16:35132061-35132062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190046777	chr16:35132090-35132091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139084233	chr16:35132103-35132104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374987195	chr16:35132109-35132110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528712863	chr16:35132146-35132147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574237568	chr16:35132167-35132168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541751222	chr16:35132178-35132179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559484822	chr16:35132224-35132225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533317343	chr16:35132253-35132254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545089155	chr16:35132255-35132256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183048611	chr16:35132264-35132265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561891259	chr16:35132293-35132294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531054499	chr16:35132368-35132369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549181007	chr16:35132397-35132398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188340088	chr16:35132398-35132399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146364663	chr16:35132438-35132439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529238125	chr16:35132439-35132440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149915248	chr16:35132452-35132453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7184469	chr16:35132468-35132469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571462662	chr16:35132483-35132484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538596475	chr16:35132488-35132489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556562837	chr16:35132491-35132492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568591528	chr16:35132492-35132493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535977310	chr16:35132497-35132498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570773549	chr16:35132505-35132506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555531297	chr16:35132510-35132511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7184498	chr16:35132514-35132515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534914771	chr16:35132523-35132524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371852984	chr16:35132531-35132532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144891429	chr16:35132534-35132535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578203108	chr16:35132540-35132541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74016124	chr16:35132565-35132566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139814471	chr16:35132571-35132572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112933042	chr16:35132591-35132592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146882395	chr16:35132598-35132599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561368674	chr16:35132714-35132715	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
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
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medulloblastoma	21163964	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35125400-35132400	Weak transcription	Stomach Mucosa	stomach
2	chr16:35132400-35132600	Enhancers	Stomach Mucosa	stomach
3	chr16:35132600-35132800	ZNF genes & repeats	Fetal Brain Female	brain

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