Variant report

Variant	esv3420274
Chromosome Location	chr13:52498051-52502249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52501775..52503444-chr13:52504796..52507075,2	K562	blood:
2	chr13:52416388..52418055-chr13:52496195..52498619,2	K562	blood:
3	chr13:52485688..52487698-chr13:52501876..52503635,2	MCF-7	breast:
4	chr13:52498426..52500367-chr13:52585440..52587575,2	MCF-7	breast:
5	chr13:52470567..52471308-chr13:52498216..52498748,3	MCF-7	breast:
6	chr13:52379385..52381613-chr13:52498581..52500814,2	K562	blood:
7	chr13:52478432..52480213-chr13:52499917..52502215,2	MCF-7	breast:
8	chr13:52025495..52027458-chr13:52501221..52503842,2	MCF-7	breast:
9	chr13:52470122..52471057-chr13:52497836..52498780,6	K562	blood:
10	chr13:52491156..52495004-chr13:52498889..52501522,3	MCF-7	breast:
11	chr13:52496511..52499468-chr13:52568718..52570837,2	MCF-7	breast:
12	chr13:52493211..52494944-chr13:52498242..52500919,2	K562	blood:
13	chr13:52500788..52502899-chr13:52504478..52506226,2	MCF-7	breast:
14	chr13:52494744..52497994-chr13:52498651..52501813,3	K562	blood:
15	chr13:52494041..52496295-chr13:52497772..52499467,2	MCF-7	breast:
16	chr13:52485984..52486508-chr13:52498132..52498684,2	MCF-7	breast:
17	chr13:52484875..52491698-chr13:52491732..52499779,14	MCF-7	breast:
18	chr13:52496037..52498400-chr13:52502438..52504247,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123191	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000253710	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563525839	chr13:52498051-52498052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577052327	chr13:52498056-52498057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557488388	chr13:52498089-52498090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111768091	chr13:52498095-52498096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544702243	chr13:52498104-52498105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9591439	chr13:52498106-52498107	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375182483	chr13:52498126-52498127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527239992	chr13:52498127-52498128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185326604	chr13:52498141-52498142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114971593	chr13:52498148-52498149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376736243	chr13:52498159-52498160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369114934	chr13:52498177-52498178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529929462	chr13:52498194-52498195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535700051	chr13:52498208-52498209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550074773	chr13:52498217-52498218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151010583	chr13:52498297-52498298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190252549	chr13:52498310-52498311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372899525	chr13:52498403-52498404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538874102	chr13:52498404-52498405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552660271	chr13:52498408-52498409	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566183582	chr13:52498437-52498438	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150024497	chr13:52498464-52498465	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181966473	chr13:52498562-52498563	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9535790	chr13:52498578-52498579	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185012523	chr13:52498624-52498625	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145349689	chr13:52498629-52498630	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376217453	chr13:52498673-52498674	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577014788	chr13:52498739-52498740	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368946902	chr13:52498785-52498786	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115423977	chr13:52498813-52498814	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564610294	chr13:52498829-52498830	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572061015	chr13:52498836-52498837	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148842548	chr13:52498858-52498859	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560697480	chr13:52498859-52498860	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144049774	chr13:52498876-52498877	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs146417855	chr13:52498907-52498908	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201995860	chr13:52498941-52498942	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75902636	chr13:52498942-52498943	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140827784	chr13:52498982-52498983	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs116619726	chr13:52498989-52498990	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577620700	chr13:52499040-52499041	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552426078	chr13:52499070-52499071	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536926534	chr13:52499110-52499111	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs114281436	chr13:52499120-52499121	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528563552	chr13:52499145-52499146	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74352196	chr13:52499146-52499147	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111550606	chr13:52499181-52499182	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568360278	chr13:52499182-52499183	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148350239	chr13:52499189-52499190	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573855662	chr13:52499233-52499234	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52481600-52502000	Weak transcription	Right Atrium	heart
2	chr13:52481800-52506000	Weak transcription	Ovary	ovary
3	chr13:52486400-52500200	Weak transcription	Fetal Kidney	kidney
4	chr13:52486400-52523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:52486800-52502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:52487000-52507800	Weak transcription	Pancreas	Pancrea
7	chr13:52488000-52507800	Weak transcription	Brain Anterior Caudate	brain
8	chr13:52488000-52508200	Weak transcription	Brain Angular Gyrus	brain
9	chr13:52488000-52508200	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:52488200-52505800	Weak transcription	Brain Germinal Matrix	brain
11	chr13:52488200-52508000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:52489600-52508400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:52490000-52509400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:52491200-52499800	Weak transcription	Fetal Heart	heart
16	chr13:52491200-52500200	Weak transcription	Lung	lung
17	chr13:52492000-52508400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr13:52492600-52539600	Weak transcription	Fetal Brain Male	brain
19	chr13:52494400-52558000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr13:52494600-52500000	Weak transcription	Gastric	stomach
21	chr13:52494800-52527000	Weak transcription	Fetal Lung	lung
22	chr13:52495000-52500800	Strong transcription	Fetal Intestine Small	intestine
23	chr13:52495400-52512600	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:52495600-52501800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:52495600-52508200	Weak transcription	Brain Substantia Nigra	brain
26	chr13:52495600-52515000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:52496200-52498400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:52496200-52508200	Weak transcription	Stomach Mucosa	stomach
29	chr13:52496200-52508200	Weak transcription	Spleen	Spleen
30	chr13:52496400-52498200	Enhancers	Fetal Thymus	thymus
31	chr13:52496400-52499400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr13:52496600-52498200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr13:52496600-52498400	Weak transcription	Placenta	Placenta
34	chr13:52496600-52499600	Weak transcription	HSMMtube	muscle
35	chr13:52496600-52500600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:52496600-52507200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:52496600-52524200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:52496800-52498800	Strong transcription	Fetal Muscle Leg	muscle
39	chr13:52497200-52501400	Weak transcription	Left Ventricle	heart
40	chr13:52497400-52508400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:52497600-52498200	Weak transcription	HepG2	liver
42	chr13:52497600-52499800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr13:52497600-52501400	Enhancers	K562	blood
44	chr13:52497600-52501800	Weak transcription	Fetal Stomach	stomach
45	chr13:52497600-52505800	Weak transcription	Aorta	Aorta
46	chr13:52497600-52505800	Weak transcription	Fetal Intestine Large	intestine
47	chr13:52497600-52507800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:52497600-52508000	Weak transcription	Fetal Brain Female	brain
49	chr13:52497600-52508800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:52497600-52519600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links