Variant report

Variant	esv3328210
Chromosome Location	chr16:65160551-65164549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:65160800-65160950	HMEC	breast:	n/a	n/a
2	CTCF	chr16:65160880-65161030	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr16:65160821-65161077	GM12878	blood:	n/a	n/a
4	CTCF	chr16:65160780-65160930	HA-sp	spinal cord:	n/a	n/a
5	CTCF	chr16:65161220-65161370	HMEC	breast:	n/a	n/a
6	CTCF	chr16:65160820-65160970	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr16:65160900-65161050	GM12864	blood:	n/a	n/a
8	CTCF	chr16:65160820-65160970	GM12878	blood:	n/a	n/a
9	CTCF	chr16:65160880-65161030	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr16:65160740-65160890	HCT-116	colon:	n/a	n/a
11	CTCF	chr16:65160920-65161070	K562	blood:	n/a	n/a
12	CTCF	chr16:65160880-65161030	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr16:65160820-65160970	HMF	breast:	n/a	n/a
14	CTCF	chr16:65160880-65161030	BE2_C	brain:	n/a	n/a
15	CTCF	chr16:65160880-65161030	NHEK	skin:	n/a	n/a
16	CTCF	chr16:65160880-65161030	GM12872	blood:	n/a	n/a
17	CTCF	chr16:65160920-65161070	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr16:65160680-65160830	HCM	heart:	n/a	n/a
19	CTCF	chr16:65160887-65161025	NHEK	skin:	n/a	n/a
20	CTCF	chr16:65160820-65160970	BE2_C	brain:	n/a	n/a
21	CTCF	chr16:65160860-65161010	GM12801	blood:	n/a	n/a
22	CTCF	chr16:65160860-65161010	AG04449	skin:	n/a	n/a
23	CTCF	chr16:65160880-65161030	SAEC	small airway:	n/a	n/a
24	CTCF	chr16:65160960-65161110	HAc	cerebellar:	n/a	n/a
25	CTCF	chr16:65160820-65160970	GM12871	blood:	n/a	n/a
26	CTCF	chr16:65160820-65160970	SAEC	small airway:	n/a	n/a
27	CTCF	chr16:65160880-65161030	A549	lung:	n/a	n/a
28	CTCF	chr16:65160820-65160970	GM12868	blood:	n/a	n/a
29	CTCF	chr16:65160858-65161011	GM20000	blood:	n/a	n/a
30	CTCF	chr16:65160900-65161050	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr16:65160860-65161010	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr16:65160840-65160990	GM12866	blood:	n/a	n/a
33	CTCF	chr16:65161160-65161310	GM12866	blood:	n/a	n/a
34	CTCF	chr16:65160878-65161032	Gliobla	brain:	n/a	n/a
35	CTCF	chr16:65160820-65160970	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr16:65161220-65161370	GM12872	blood:	n/a	n/a
37	CTCF	chr16:65160880-65161030	HepG2	liver:	n/a	n/a
38	CTCF	chr16:65160840-65160990	AG10803	skin:	n/a	n/a
39	CTCF	chr16:65160900-65161050	HVMF	connective:	n/a	n/a
40	CTCF	chr16:65160980-65161130	BJ	skin:	n/a	n/a
41	CTCF	chr16:65160860-65161010	GM12871	blood:	n/a	n/a
42	CTCF	chr16:65160780-65160930	HCM	heart:	n/a	n/a
43	CTCF	chr16:65160860-65161010	GM12875	blood:	n/a	n/a
44	CTCF	chr16:65160860-65161010	GM12869	blood:	n/a	n/a
45	CTCF	chr16:65160754-65161051	IMR90	lung:	n/a	n/a
46	CTCF	chr16:65160820-65160970	GM12873	blood:	n/a	n/a
47	CTCF	chr16:65161160-65161310	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr16:65160840-65160990	GM12873	blood:	n/a	n/a
49	CTCF	chr16:65160880-65161030	GM12874	blood:	n/a	n/a
50	CTCF	chr16:65160780-65160930	HAc	cerebellar:	n/a	n/a

No data

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 240 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:240 , 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	rs375663189	chr16:65160556-65160557	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140941938	chr16:65160558-65160559	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544582554	chr16:65160577-65160578	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564730141	chr16:65160595-65160596	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533658317	chr16:65160668-65160669	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537884991	chr16:65160674-65160675	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368846970	chr16:65160681-65160682	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117975739	chr16:65160689-65160690	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560647958	chr16:65160791-65160792	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529013140	chr16:65160822-65160823	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185685075	chr16:65160824-65160825	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs191337902	chr16:65160825-65160826	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568779986	chr16:65160857-65160858	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537800637	chr16:65160874-65160875	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs142804374	chr16:65160895-65160896	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141486656	chr16:65160912-65160913	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs571245003	chr16:65160920-65160921	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs207476123	chr16:65160937-65160938	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183297998	chr16:65160952-65160953	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553587379	chr16:65160960-65160961	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550124351	chr16:65160976-65160977	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535600107	chr16:65161005-65161006	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146017339	chr16:65161042-65161043	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs188177243	chr16:65161070-65161071	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544635974	chr16:65161103-65161104	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs564470394	chr16:65161120-65161121	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191978970	chr16:65161153-65161154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8057003	chr16:65161156-65161157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560682617	chr16:65161216-65161217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs78871303	chr16:65161243-65161244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548806359	chr16:65161251-65161252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562561800	chr16:65161252-65161253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs139972487	chr16:65161280-65161281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551006640	chr16:65161288-65161289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs570886032	chr16:65161316-65161317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553944841	chr16:65161317-65161318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs149711091	chr16:65161351-65161352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs547263583	chr16:65161360-65161361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567354052	chr16:65161361-65161362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373853408	chr16:65161385-65161386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556076323	chr16:65161391-65161392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377424014	chr16:65161393-65161394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368012025	chr16:65161401-65161402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs367681760	chr16:65161416-65161417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs371302519	chr16:65161476-65161477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537930810	chr16:65161485-65161486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs558217353	chr16:65161486-65161487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs76051424	chr16:65161639-65161640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543244143	chr16:65161656-65161657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs562934148	chr16:65161658-65161659	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65158600-65160800	Enhancers	Fetal Intestine Large	intestine
2	chr16:65160400-65160800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:65160800-65161000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:65161000-65161200	Enhancers	HUES6 Cell Line	embryonic stem cell

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