Variant report

Variant	esv3365122
Chromosome Location	chr13:52998189-52999561
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	chr13:52993615..52996128-chr13:52998035..53000509,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561120463	chr13:52998196-52998197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530477041	chr13:52998200-52998201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536347995	chr13:52998207-52998208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550558597	chr13:52998274-52998275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145452207	chr13:52998287-52998288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536081296	chr13:52998324-52998325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184036680	chr13:52998334-52998335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147705396	chr13:52998418-52998419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530109074	chr13:52998438-52998439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555098292	chr13:52998479-52998480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575705100	chr13:52998488-52998489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537920374	chr13:52998489-52998490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34036680	chr13:52998494-52998495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189116435	chr13:52998521-52998522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139765472	chr13:52998571-52998572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181487047	chr13:52998572-52998573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116837136	chr13:52998589-52998590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149779680	chr13:52998672-52998673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4886077	chr13:52998697-52998698	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs563787472	chr13:52998710-52998711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532723266	chr13:52998853-52998854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546656738	chr13:52998884-52998885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192108755	chr13:52998902-52998903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563029513	chr13:52998989-52998990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530644731	chr13:52999021-52999022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550432834	chr13:52999028-52999029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555673289	chr13:52999030-52999031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566311550	chr13:52999031-52999032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145694622	chr13:52999048-52999049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182332852	chr13:52999080-52999081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149011286	chr13:52999087-52999088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59722869	chr13:52999126-52999127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566435393	chr13:52999159-52999160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535326830	chr13:52999166-52999167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145860892	chr13:52999167-52999168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9316575	chr13:52999239-52999240	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567919294	chr13:52999326-52999327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9568733	chr13:52999379-52999380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77270454	chr13:52999387-52999388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368677067	chr13:52999435-52999436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538021566	chr13:52999516-52999517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141375010	chr13:52999552-52999553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52980200-53002000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:52980200-53021600	Weak transcription	Small Intestine	intestine
3	chr13:52981000-53022800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:52982800-53012600	Weak transcription	Fetal Brain Male	brain
5	chr13:52983600-53000800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:52983800-53016600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr13:52984000-53002400	Weak transcription	Hela-S3	cervix
8	chr13:52984400-53023400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:52984800-53013400	Strong transcription	Dnd41	blood
10	chr13:52985000-53000600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:52985000-53001400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:52985000-53002400	Weak transcription	K562	blood
13	chr13:52985000-53013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:52985000-53017400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr13:52985000-53019400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:52985600-53000800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr13:52985600-53004000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:52985600-53010600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr13:52985800-53001400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:52986000-53017000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr13:52986200-53001600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:52986600-53013400	Strong transcription	Liver	Liver
23	chr13:52986800-53002400	Weak transcription	Stomach Mucosa	stomach
24	chr13:52987000-53004200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:52987200-53023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:52988000-53001200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:52988200-52999400	Strong transcription	Fetal Muscle Leg	muscle
28	chr13:52988200-53001200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr13:52988400-53001400	Strong transcription	Fetal Thymus	thymus
30	chr13:52988800-53002600	Weak transcription	Psoas Muscle	Psoas
31	chr13:52988800-53010000	Weak transcription	Esophagus	oesophagus
32	chr13:52989000-53003400	Weak transcription	Gastric	stomach
33	chr13:52989000-53006000	Weak transcription	NHLF	lung
34	chr13:52989000-53015000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:52989000-53016200	Strong transcription	Adipose Nuclei	Adipose
36	chr13:52989000-53021600	Weak transcription	Fetal Heart	heart
37	chr13:52989000-53022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:52989400-53003400	Weak transcription	Spleen	Spleen
39	chr13:52989400-53015000	Weak transcription	Lung	lung
40	chr13:52990400-52998600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:52990400-53002400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:52990400-53003000	Weak transcription	Brain Angular Gyrus	brain
43	chr13:52990600-53001400	Strong transcription	Osteobl	bone
44	chr13:52990800-53001600	Strong transcription	Fetal Intestine Small	intestine
45	chr13:52990800-53015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr13:52991000-53000200	Strong transcription	Fetal Stomach	stomach
47	chr13:52991000-53007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr13:52991200-53001400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:52991200-53017000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:52991400-52999600	Weak transcription	NHDF-Ad	bronchial

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