Variant report

Variant	esv3381931
Chromosome Location	chr16:65161126-65164624
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	chr16:65161220-65161370	GM12872	blood:	n/a	n/a
2	CTCF	chr16:65161160-65161310	HA-sp	spinal cord:	n/a	n/a
3	CTCF	chr16:65163900-65164050	BE2_C	brain:	n/a	n/a
4	CTCF	chr16:65161600-65161750	HCFaa	heart:	n/a	n/a
5	CTCF	chr16:65161160-65161310	GM12866	blood:	n/a	n/a
6	CTCF	chr16:65160980-65161130	BJ	skin:	n/a	n/a
7	CTCF	chr16:65161220-65161370	HMEC	breast:	n/a	n/a
8	CTCF	chr16:65161340-65161490	HEK293	kidney:	n/a	n/a
9	POLR2A	chr16:65163916-65163941	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF274	chr16:65161998-65163464	K562	blood:	n/a	n/a

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 214 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191978970	chr16:65161153-65161154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8057003	chr16:65161156-65161157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560682617	chr16:65161216-65161217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs78871303	chr16:65161243-65161244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548806359	chr16:65161251-65161252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs562561800	chr16:65161252-65161253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139972487	chr16:65161280-65161281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551006640	chr16:65161288-65161289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570886032	chr16:65161316-65161317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs553944841	chr16:65161317-65161318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs149711091	chr16:65161351-65161352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547263583	chr16:65161360-65161361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567354052	chr16:65161361-65161362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373853408	chr16:65161385-65161386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556076323	chr16:65161391-65161392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs377424014	chr16:65161393-65161394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368012025	chr16:65161401-65161402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs367681760	chr16:65161416-65161417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371302519	chr16:65161476-65161477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs537930810	chr16:65161485-65161486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558217353	chr16:65161486-65161487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76051424	chr16:65161639-65161640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs543244143	chr16:65161656-65161657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562934148	chr16:65161658-65161659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531461236	chr16:65161696-65161697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544672021	chr16:65161704-65161705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564563481	chr16:65161707-65161708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200826282	chr16:65161712-65161713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs527248786	chr16:65161718-65161719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201705540	chr16:65161733-65161734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs558254398	chr16:65161999-65162000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571670026	chr16:65162000-65162001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534141960	chr16:65162055-65162056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199780704	chr16:65162076-65162077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs71143553	chr16:65162077-65162078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371603757	chr16:65162078-65162079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs553869158	chr16:65162091-65162092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs560594940	chr16:65162096-65162097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200685600	chr16:65162119-65162120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs71143554	chr16:65162130-65162131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs71384711	chr16:65162141-65162142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs542926762	chr16:65162150-65162151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373616077	chr16:65162160-65162161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374622204	chr16:65162171-65162172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs377562868	chr16:65162174-65162175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs10693459	chr16:65162177-65162178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs71663325	chr16:65162178-65162179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs374949240	chr16:65162207-65162208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs367640565	chr16:65162210-65162211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs367713026	chr16:65162212-65162213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65161000-65161200	Enhancers	HUES6 Cell Line	embryonic stem cell

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