Variant report

Variant	esv3444390
Chromosome Location	chr13:64415386-64416117
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	chr13:64415903-64415950	LNCaP	prostate:	n/a	n/a

Variant related genes	Relation type
ENSG00000272299	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114144739	chr13:64415386-64415387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569666301	chr13:64415387-64415388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560889368	chr13:64415393-64415394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528056904	chr13:64415395-64415396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546708623	chr13:64415401-64415402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564807456	chr13:64415408-64415409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138162505	chr13:64415423-64415424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532086268	chr13:64415432-64415433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4883725	chr13:64415460-64415461	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537354213	chr13:64415486-64415487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183539239	chr13:64415495-64415496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567339405	chr13:64415527-64415528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534694762	chr13:64415548-64415549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553476377	chr13:64415556-64415557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571639666	chr13:64415579-64415580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539079434	chr13:64415606-64415607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149512718	chr13:64415639-64415640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187882929	chr13:64415642-64415643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575482001	chr13:64415653-64415654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113212600	chr13:64415665-64415666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144081350	chr13:64415669-64415670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373044546	chr13:64415673-64415674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572903455	chr13:64415689-64415690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74090906	chr13:64415695-64415696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565032160	chr13:64415697-64415698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554327598	chr13:64415701-64415702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567681322	chr13:64415704-64415705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544251274	chr13:64415707-64415708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377734257	chr13:64415717-64415718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563564598	chr13:64415731-64415732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530976576	chr13:64415733-64415734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549303794	chr13:64415737-64415738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74090907	chr13:64415748-64415749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528524939	chr13:64415754-64415755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546683712	chr13:64415758-64415759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113360167	chr13:64415776-64415777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556176773	chr13:64415779-64415780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146202259	chr13:64415785-64415786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139116657	chr13:64415793-64415794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143955589	chr13:64415795-64415796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373034126	chr13:64415817-64415818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375216969	chr13:64415821-64415822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573046857	chr13:64415841-64415842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540481380	chr13:64415860-64415861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558271667	chr13:64415861-64415862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189860779	chr13:64415867-64415868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543991219	chr13:64415873-64415874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562231577	chr13:64415886-64415887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531039560	chr13:64415896-64415897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542801174	chr13:64415908-64415909	Weak transcription	TF binding region	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64415000-64415600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:64415000-64415600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:64415200-64415400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:64415200-64415600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:64415600-64418200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:64415600-64419000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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