Variant report

Variant	esv3522219
Chromosome Location	chr13:64415054-64415372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64415303-64415353	HUVEC	blood vessel:	n/a
2	chr13:64415303-64415353	GM12878	blood:	n/a
3	chr13:64415303-64415353	HEK293	kidney:	embryo
4	chr13:64415303-64415353	A549	lung:	n/a
5	chr13:64415303-64415353	Caco-2	colon:	n/a
6	chr13:64415303-64415353	Jurkat	blood:	n/a
7	chr13:64415303-64415353	SK-N-MC	brain:	n/a
8	chr13:64415303-64415353	NB4	blood:	n/a
9	chr13:64415303-64415353	GM12891	blood:	n/a
10	chr13:64415303-64415353	AG04449	skin:	fetal
11	chr13:64415303-64415353	AG04450	lung:	fetal
12	chr13:64415303-64415353	AG09319	gingival:	n/a
13	chr13:64415303-64415353	T-47D	breast:	n/a
14	chr13:64415303-64415353	ProgFib	skin:	n/a
15	chr13:64415303-64415353	SK-N-SH	brain:	n/a
16	chr13:64415303-64415353	HMEC	breast:	n/a
17	chr13:64415303-64415353	PrEC	prostate:	n/a
18	chr13:64415303-64415353	CMK	blood:	n/a
19	chr13:64415303-64415353	HRE	kidney:	n/a
20	chr13:64415303-64415353	SKMC	muscle:	n/a
21	chr13:64415303-64415353	BJ	skin:	n/a
22	chr13:64415303-64415353	BE2_C	brain:	n/a
23	chr13:64415303-64415353	HAEpiC	amniotic membrane:	n/a
24	chr13:64415303-64415353	HCM	heart:	n/a
25	chr13:64415303-64415353	NH-A	brain:	n/a
26	chr13:64415303-64415353	HCT-116	colon:	n/a
27	chr13:64415303-64415353	HRPEpiC	eye:	n/a
28	chr13:64415303-64415353	GM19239	blood:	n/a
29	chr13:64415303-64415353	MCF10A-Er-Src	breast:	n/a
30	chr13:64415303-64415353	U87	brain:	n/a
31	chr13:64415303-64415353	PFSK-1	brain:	n/a
32	chr13:64415303-64415353	AG10803	skin:	n/a
33	chr13:64415303-64415353	ovcar-3	ovarian:	n/a
34	chr13:64415303-64415353	AG09309	skin:	n/a
35	chr13:64415303-64415353	IMR90	lung:	fetal
36	chr13:64415303-64415353	PANC-1	pancreas:	n/a
37	chr13:64415303-64415353	MCF-7	breast:	n/a
38	chr13:64415303-64415353	H1-hESC	embryonic stem cell:	embryo
39	chr13:64415303-64415353	SAEC	small airway:	n/a
40	chr13:64415303-64415353	HNPCEpiC	eye:	n/a
41	chr13:64415303-64415353	HL-60	blood:	n/a
42	chr13:64415303-64415353	HEEpiC	esophagus:	n/a
43	chr13:64415303-64415353	HCF	heart:	n/a
44	chr13:64415303-64415353	RPTEC	kidney:	n/a
45	chr13:64415303-64415353	HIPEpiC	eye:	n/a
46	chr13:64415303-64415353	NT2-D1	testis:	n/a
47	chr13:64415303-64415353	NHBE	bronchial:	n/a
48	chr13:64415303-64415353	AoSMC	blood vessel:	n/a
49	chr13:64415303-64415353	HPAEpiC	pulmonary alveolar:	n/a
50	chr13:64415303-64415353	HepG2	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000272299	CpG island

Extended variants
information (count: 55 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558135215	chr13:64415057-64415058	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576329596	chr13:64415062-64415063	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs543527498	chr13:64415063-64415064	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561831780	chr13:64415067-64415068	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373685305	chr13:64415074-64415075	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529082140	chr13:64415075-64415076	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7989557	chr13:64415076-64415077	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559431563	chr13:64415080-64415081	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs533269255	chr13:64415082-64415083	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541887810	chr13:64415084-64415085	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375234369	chr13:64415088-64415089	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs530500952	chr13:64415089-64415090	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549125558	chr13:64415091-64415092	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567363361	chr13:64415092-64415093	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536094409	chr13:64415094-64415095	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114874941	chr13:64415109-64415110	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566093884	chr13:64415119-64415120	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188326208	chr13:64415123-64415124	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528691376	chr13:64415125-64415126	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545864167	chr13:64415127-64415128	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372859073	chr13:64415132-64415133	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150423854	chr13:64415134-64415135	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs386771726	chr13:64415137-64415138	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138332374	chr13:64415149-64415150	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573787445	chr13:64415156-64415157	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541089581	chr13:64415164-64415165	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544891968	chr13:64415170-64415171	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559504325	chr13:64415174-64415175	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs4883724	chr13:64415176-64415177	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545305528	chr13:64415181-64415182	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532257011	chr13:64415186-64415187	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563412984	chr13:64415190-64415191	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs530566496	chr13:64415193-64415194	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143802218	chr13:64415208-64415209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs180672742	chr13:64415216-64415217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186375536	chr13:64415228-64415229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546350342	chr13:64415233-64415234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs59939050	chr13:64415238-64415239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181802411	chr13:64415243-64415244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs552082094	chr13:64415245-64415246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570250821	chr13:64415258-64415259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537089345	chr13:64415262-64415263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555354075	chr13:64415266-64415267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573655128	chr13:64415280-64415281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533823943	chr13:64415281-64415282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566650625	chr13:64415284-64415285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534815632	chr13:64415285-64415286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187077976	chr13:64415310-64415311	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs577793926	chr13:64415322-64415323	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs560837966	chr13:64415346-64415347	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64415000-64415200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:64415000-64415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:64415000-64415600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:64415200-64415400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:64415200-64415600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin

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