Variant report

Variant	esv32589
Chromosome Location	chr13:51165508-51166870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51166235..51168592-chr13:51178276..51180293,2	K562	blood:
2	chr13:51164156..51167567-chr13:51169457..51171803,3	K562	blood:
3	chr13:51165408..51167932-chr13:51169513..51171803,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187787338	chr13:51165543-51165544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116553821	chr13:51165569-51165570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538094835	chr13:51165598-51165599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556754806	chr13:51165621-51165622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74079822	chr13:51165649-51165650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138610620	chr13:51165671-51165672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1239681	chr13:51165710-51165711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540929084	chr13:51165718-51165719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149848089	chr13:51165721-51165722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572384472	chr13:51165793-51165794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542987457	chr13:51165798-51165799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144856055	chr13:51165816-51165817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576279442	chr13:51165819-51165820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200598654	chr13:51165855-51165856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12869529	chr13:51165912-51165913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529508561	chr13:51165958-51165959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564694646	chr13:51165974-51165975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374161811	chr13:51165977-51165978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369314648	chr13:51165993-51165994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532090430	chr13:51166061-51166062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191142716	chr13:51166101-51166102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34447159	chr13:51166114-51166115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529701363	chr13:51166142-51166143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548158520	chr13:51166154-51166155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376311414	chr13:51166185-51166186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183692452	chr13:51166204-51166205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567872607	chr13:51166290-51166291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531995814	chr13:51166343-51166344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187980075	chr13:51166362-51166363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140083020	chr13:51166368-51166369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192659178	chr13:51166445-51166446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57583921	chr13:51166471-51166472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145601799	chr13:51166513-51166514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185048241	chr13:51166514-51166515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536292430	chr13:51166668-51166669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554911484	chr13:51166709-51166710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189978910	chr13:51166713-51166714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576264621	chr13:51166761-51166762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543287107	chr13:51166770-51166771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150214735	chr13:51166790-51166791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551903124	chr13:51166797-51166798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147787219	chr13:51166820-51166821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527647597	chr13:51166845-51166846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60761229	chr13:51166847-51166848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139563315	chr13:51166867-51166868	Weak transcription Enhancers	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
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
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
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
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
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 myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51150400-51167400	Weak transcription	HepG2	liver
2	chr13:51151200-51169600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:51156200-51167600	Weak transcription	Fetal Kidney	kidney
4	chr13:51159400-51168000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:51159400-51168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:51159400-51170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:51159600-51168400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:51160000-51166600	Enhancers	Fetal Thymus	thymus
9	chr13:51160000-51168000	Weak transcription	Thymus	Thymus
10	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
11	chr13:51160800-51168000	Enhancers	Dnd41	blood
12	chr13:51161200-51166000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:51161400-51167600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:51161400-51168000	Weak transcription	Fetal Intestine Small	intestine
15	chr13:51162000-51168000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:51162000-51168800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:51162200-51167400	Enhancers	HMEC	breast
18	chr13:51162200-51168000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:51162200-51172600	Weak transcription	Spleen	Spleen
20	chr13:51162400-51168800	Weak transcription	Fetal Lung	lung
21	chr13:51162400-51170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:51162800-51168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:51163600-51168600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:51163800-51166000	Weak transcription	Hela-S3	cervix
25	chr13:51163800-51167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:51164000-51166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:51164000-51168000	Weak transcription	Fetal Intestine Large	intestine
28	chr13:51164000-51168000	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:51164400-51167400	Enhancers	NH-A	brain
30	chr13:51164400-51168800	Enhancers	Primary B cells from cord blood	blood
31	chr13:51164400-51168800	Weak transcription	Adipose Nuclei	Adipose
32	chr13:51164400-51168800	Weak transcription	Right Atrium	heart
33	chr13:51164600-51166600	Weak transcription	HSMMtube	muscle
34	chr13:51164600-51166600	Weak transcription	NHDF-Ad	bronchial
35	chr13:51164600-51167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:51164800-51165800	Weak transcription	Osteobl	bone
37	chr13:51164800-51166000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:51164800-51166600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:51164800-51169400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:51165000-51165600	Weak transcription	GM12878-XiMat	blood
41	chr13:51165000-51166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:51165200-51165600	Weak transcription	NHEK	skin
43	chr13:51165200-51166000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:51165200-51166600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr13:51165200-51167000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:51165200-51167200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:51165200-51168400	Weak transcription	Left Ventricle	heart
48	chr13:51165400-51165600	Enhancers	Fetal Heart	heart
49	chr13:51165400-51165800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:51165400-51165800	Weak transcription	HSMM	muscle

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