Variant report

Variant	esv1968516
Chromosome Location	chr13:64141412-64141847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537696988	chr13:64141430-64141431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538911474	chr13:64141477-64141478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376612682	chr13:64141480-64141481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147154353	chr13:64141483-64141484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140399936	chr13:64141491-64141492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7320656	chr13:64141501-64141502	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7326769	chr13:64141520-64141521	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563449639	chr13:64141541-64141542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs530723234	chr13:64141549-64141550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142078222	chr13:64141556-64141557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs55691075	chr13:64141559-64141560	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528101924	chr13:64141573-64141574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546170690	chr13:64141580-64141581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs9570941	chr13:64141581-64141582	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532201973	chr13:64141582-64141583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551688894	chr13:64141583-64141584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377597004	chr13:64141607-64141608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570193180	chr13:64141625-64141626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185873007	chr13:64141654-64141655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556143291	chr13:64141661-64141662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567938876	chr13:64141685-64141686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150052718	chr13:64141711-64141712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145356398	chr13:64141733-64141734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1000588	chr13:64141737-64141738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538776307	chr13:64141752-64141753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141324182	chr13:64141770-64141771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557163889	chr13:64141771-64141772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74087000	chr13:64141826-64141827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567772759	chr13:64141840-64141841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64140000-64141600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:64140400-64145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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