Variant report

Variant	esv3518196
Chromosome Location	chr13:53357793-53363410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53362246..53364630-chr13:53365395..53367188,2	K562	blood:
2	chr13:53225685..53228581-chr13:53356267..53357862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165416	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs534893858	chr13:53357805-53357806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548538694	chr13:53357821-53357822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9536286	chr13:53357830-53357831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187180474	chr13:53357843-53357844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556973404	chr13:53357851-53357852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76565735	chr13:53357871-53357872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148337036	chr13:53357879-53357880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560937558	chr13:53357882-53357883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573127115	chr13:53357902-53357903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542100462	chr13:53357903-53357904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9591463	chr13:53357923-53357924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529161722	chr13:53357956-53357957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544281581	chr13:53357965-53357966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570143838	chr13:53358068-53358069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188409291	chr13:53358093-53358094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369828537	chr13:53358099-53358100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17089624	chr13:53358100-53358101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540749506	chr13:53358153-53358154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559572884	chr13:53358171-53358172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528312900	chr13:53358175-53358176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180712170	chr13:53358192-53358193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552576393	chr13:53358201-53358202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs235785	chr13:53358203-53358204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs370196216	chr13:53358274-53358275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530486966	chr13:53358286-53358287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140486847	chr13:53358329-53358330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570476898	chr13:53358371-53358372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147044533	chr13:53358414-53358415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185779655	chr13:53358431-53358432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566687371	chr13:53358530-53358531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190050761	chr13:53358573-53358574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76014451	chr13:53358579-53358580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575541862	chr13:53358601-53358602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs36093960	chr13:53358721-53358722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377408259	chr13:53358749-53358750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34336396	chr13:53358787-53358788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544928526	chr13:53358796-53358797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557846228	chr13:53358898-53358899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183468075	chr13:53358926-53358927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28678691	chr13:53358930-53358931	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371118902	chr13:53358938-53358939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528251138	chr13:53358961-53358962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564594925	chr13:53358962-53358963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138257839	chr13:53359026-53359027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28404210	chr13:53359028-53359029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28591495	chr13:53359034-53359035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187129698	chr13:53359061-53359062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201731616	chr13:53359084-53359085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548821108	chr13:53359088-53359089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191566436	chr13:53359100-53359101	Enhancers 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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53353800-53361000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:53356400-53357800	Enhancers	Fetal Muscle Leg	muscle
3	chr13:53356400-53361000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:53356800-53359400	Weak transcription	Brain Anterior Caudate	brain
5	chr13:53357200-53361200	Weak transcription	Brain Angular Gyrus	brain
6	chr13:53357400-53358800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:53357400-53358800	Weak transcription	Brain Substantia Nigra	brain
8	chr13:53357400-53361400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:53357600-53359600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:53357600-53361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:53358800-53359000	Enhancers	Brain Substantia Nigra	brain
12	chr13:53358800-53359600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:53358800-53362000	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:53359000-53359400	Weak transcription	Brain Substantia Nigra	brain
15	chr13:53359200-53361600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:53359400-53362000	Enhancers	Brain Anterior Caudate	brain
17	chr13:53359400-53362200	Enhancers	Brain Hippocampus Middle	brain
18	chr13:53359400-53362400	Enhancers	Brain Substantia Nigra	brain
19	chr13:53359600-53360400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr13:53359600-53361800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr13:53359600-53362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:53359600-53362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:53359800-53360000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr13:53360000-53360400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:53360000-53360400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:53360000-53360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:53360000-53362000	Enhancers	HMEC	breast
28	chr13:53360400-53361800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:53360800-53362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:53361000-53361600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:53361000-53361800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:53361000-53362000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:53361000-53362600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:53361200-53361800	Enhancers	Brain Angular Gyrus	brain
35	chr13:53361200-53362400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr13:53361400-53361600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:53361400-53362000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:53361400-53362400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:53361400-53362600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr13:53361600-53362400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr13:53361600-53362400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:53361800-53362200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr13:53361800-53362200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:53362000-53362600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:53362200-53362400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:53362200-53362400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:53362400-53362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:53362400-53364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:53362600-53363400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:53362600-53364800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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