Variant report

Variant	esv3370262
Chromosome Location	chr13:53774568-53774893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74474805	chr13:53774607-53774608	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181823674	chr13:53774621-53774622	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147419086	chr13:53774626-53774627	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2004422	chr13:53774627-53774628	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557656804	chr13:53774632-53774633	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577312525	chr13:53774649-53774650	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546138625	chr13:53774694-53774695	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572154811	chr13:53774712-53774713	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139688378	chr13:53774718-53774719	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2015677	chr13:53774731-53774732	Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541944334	chr13:53774810-53774811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145202175	chr13:53774858-53774859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202149035	chr13:53774873-53774874	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53773400-53775400	Weak transcription	Brain Anterior Caudate	brain
2	chr13:53773800-53774800	Bivalent Enhancer	Fetal Brain Female	brain
3	chr13:53774000-53774600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr13:53774000-53774800	Bivalent Enhancer	Brain Germinal Matrix	brain
5	chr13:53774200-53776200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:53774200-53776200	ZNF genes & repeats	Spleen	Spleen
7	chr13:53774200-53776600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:53774400-53774600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:53774400-53775200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:53774400-53776600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:53774400-53776600	Enhancers	Pancreas	Pancrea
12	chr13:53774600-53774800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr13:53774600-53774800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:53774600-53775200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:53774600-53775400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:53774600-53776000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr13:53774600-53776000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr13:53774800-53775000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr13:53774800-53775000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:53774800-53775000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:53774800-53775000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:53774800-53775000	Bivalent Enhancer	Esophagus	oesophagus
23	chr13:53774800-53775200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr13:53774800-53775200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr13:53774800-53775200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr13:53774800-53775200	Bivalent Enhancer	Fetal Brain Male	brain
27	chr13:53774800-53775200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr13:53774800-53775400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr13:53774800-53775400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:53774800-53775400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr13:53774800-53775600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr13:53774800-53775600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr13:53774800-53775800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr13:53774800-53775800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr13:53774800-53775800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:53774800-53775800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr13:53774800-53775800	Enhancers	Gastric	stomach
38	chr13:53774800-53776000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr13:53774800-53776400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr13:53774800-53776400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr13:53774800-53776400	Bivalent Enhancer	Lung	lung

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