Variant report

Variant	esv3434913
Chromosome Location	chr13:50235286-50237242
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	chr13:50227490..50229830-chr13:50234207..50235813,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374216796	chr13:50235286-50235287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11840284	chr13:50235380-50235381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550099444	chr13:50235388-50235389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139407673	chr13:50235399-50235400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191584297	chr13:50235420-50235421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553845704	chr13:50235486-50235487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572015420	chr13:50235499-50235500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536322531	chr13:50235505-50235506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555716863	chr13:50235527-50235528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576788202	chr13:50235543-50235544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544508082	chr13:50235552-50235553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562802393	chr13:50235578-50235579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577632777	chr13:50235724-50235725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372851084	chr13:50235750-50235751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565669135	chr13:50235783-50235784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183885070	chr13:50235788-50235789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527818526	chr13:50235816-50235817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113945578	chr13:50235819-50235820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543101852	chr13:50235855-50235856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560974775	chr13:50235914-50235915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542477181	chr13:50235926-50235927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534648658	chr13:50235941-50235942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531483975	chr13:50235950-50235951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550105802	chr13:50235971-50235972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571530947	chr13:50235976-50235977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145027491	chr13:50235982-50235983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547104683	chr13:50235983-50235984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374483573	chr13:50236060-50236061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs45475391	chr13:50236067-50236068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188734195	chr13:50236160-50236161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373505116	chr13:50236300-50236301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538015066	chr13:50236318-50236319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556462557	chr13:50236323-50236324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9535285	chr13:50236368-50236369	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs545669476	chr13:50236383-50236384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555963578	chr13:50236421-50236422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74074801	chr13:50236422-50236423	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572403854	chr13:50236458-50236459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9526585	chr13:50236469-50236470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537369875	chr13:50236536-50236537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542761069	chr13:50236549-50236550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7320619	chr13:50236573-50236574	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531549062	chr13:50236582-50236583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543613271	chr13:50236585-50236586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538776560	chr13:50236587-50236588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs207473744	chr13:50236612-50236613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577400189	chr13:50236669-50236670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565049830	chr13:50236686-50236687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532337002	chr13:50236784-50236785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397749443	chr13:50236789-50236790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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	17899364	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
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	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
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	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
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	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
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
3	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
4	chr13:50217800-50241000	Weak transcription	K562	blood
5	chr13:50220000-50235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:50221600-50236000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:50222800-50236800	Weak transcription	Aorta	Aorta
9	chr13:50224200-50239800	Weak transcription	HUVEC	blood vessel
10	chr13:50224400-50236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:50224600-50243000	Weak transcription	Brain Germinal Matrix	brain
12	chr13:50224600-50252600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:50226200-50235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:50226400-50244000	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:50226800-50235400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:50226800-50241200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:50227000-50240000	Weak transcription	Adipose Nuclei	Adipose
18	chr13:50227000-50241200	Weak transcription	GM12878-XiMat	blood
19	chr13:50227400-50253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr13:50227800-50240000	Weak transcription	Left Ventricle	heart
21	chr13:50227800-50241000	Weak transcription	Fetal Brain Male	brain
22	chr13:50228400-50241200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:50228600-50242000	Weak transcription	HSMMtube	muscle
24	chr13:50228600-50244000	Weak transcription	Fetal Kidney	kidney
25	chr13:50229400-50237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:50229600-50239800	Weak transcription	Thymus	Thymus
27	chr13:50229800-50243400	Weak transcription	Small Intestine	intestine
28	chr13:50230000-50236800	Weak transcription	Fetal Heart	heart
29	chr13:50230000-50239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:50230000-50240000	Weak transcription	Colonic Mucosa	Colon
31	chr13:50230000-50241000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:50230200-50235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:50230200-50236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:50230200-50237000	Weak transcription	A549	lung
35	chr13:50230200-50237200	Weak transcription	Osteobl	bone
36	chr13:50230200-50241200	Weak transcription	HMEC	breast
37	chr13:50230200-50242000	Weak transcription	NHDF-Ad	bronchial
38	chr13:50230400-50239600	Weak transcription	HSMM	muscle
39	chr13:50230400-50243400	Strong transcription	Fetal Stomach	stomach
40	chr13:50230600-50238400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:50230600-50239800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:50230600-50241200	Weak transcription	Fetal Brain Female	brain
43	chr13:50231000-50237800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:50231000-50241000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:50231000-50246800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:50231200-50241000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr13:50231200-50241800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:50231400-50235600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr13:50231400-50235800	Strong transcription	HepG2	liver
50	chr13:50231400-50237400	Strong transcription	Fetal Muscle Leg	muscle

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