Variant report

Variant	esv3363958
Chromosome Location	chr13:53231751-53235049
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53225208..53228349-chr13:53233022..53236240,3	MCF-7	breast:
2	chr13:53226553..53228501-chr13:53232200..53235094,4	K562	blood:
3	chr13:53225394..53228460-chr13:53233357..53236526,4	MCF-7	breast:
4	chr13:53227001..53228645-chr13:53232234..53234717,3	K562	blood:
5	chr13:53189836..53192500-chr13:53230172..53233036,2	MCF-7	breast:
6	chr13:53169737..53172275-chr13:53234901..53237385,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SUGT1	hsa-miR-34a-5p	chr13:53232568-53232590

Variant related genes	Relation type
ENSG00000165416	chromatin interactions
ENSG00000139675	chromatin interactions
ENSG00000250299	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560630569	chr13:53231762-53231763	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372490161	chr13:53231763-53231764	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529679464	chr13:53231769-53231770	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377203850	chr13:53231777-53231778	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549516637	chr13:53231790-53231791	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375176272	chr13:53231805-53231806	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538574814	chr13:53231865-53231866	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552421612	chr13:53231889-53231890	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112162572	chr13:53231897-53231898	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185906015	chr13:53231915-53231916	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534795389	chr13:53231930-53231931	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113870243	chr13:53231931-53231932	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574983466	chr13:53231987-53231988	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564100857	chr13:53232003-53232004	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557087823	chr13:53232046-53232047	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577134365	chr13:53232063-53232064	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546199874	chr13:53232096-53232097	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559594056	chr13:53232274-53232275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573132983	chr13:53232277-53232278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs542006618	chr13:53232395-53232396	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561901832	chr13:53232401-53232402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532980748	chr13:53232447-53232448	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138004838	chr13:53232451-53232452	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs539551299	chr13:53232456-53232457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs563161736	chr13:53232462-53232463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368413587	chr13:53232472-53232473	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs4542538	chr13:53232489-53232490	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs149598140	chr13:53232506-53232507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs78398870	chr13:53232514-53232515	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs74087401	chr13:53232521-53232522	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190684396	chr13:53232525-53232526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs144266885	chr13:53232530-53232531	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs113014534	chr13:53232579-53232580	Weak transcription Strong transcription Enhancers	Chromatin interactive region miRNA target site	4 gene(s)	Overlapped CNVs	n/a
34	rs368097315	chr13:53232610-53232611	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568220680	chr13:53232719-53232720	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs79832886	chr13:53232745-53232746	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs148722565	chr13:53232755-53232756	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs557397450	chr13:53232814-53232815	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577194462	chr13:53232831-53232832	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs201553298	chr13:53232874-53232875	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs59712858	chr13:53232890-53232891	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs73186430	chr13:53232891-53232892	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553288970	chr13:53232946-53232947	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs182807346	chr13:53232979-53232980	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs573196090	chr13:53233033-53233034	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs9634850	chr13:53233105-53233106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142246432	chr13:53233127-53233128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555559661	chr13:53233154-53233155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529078833	chr13:53233155-53233156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9634851	chr13:53233156-53233157	Weak transcription Strong transcription	Chromatin interactive region	1 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
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53227600-53235000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:53227800-53238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53227800-53238800	Weak transcription	Esophagus	oesophagus
4	chr13:53227800-53260000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:53228000-53251000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:53228200-53232200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:53228200-53256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:53228400-53231800	Weak transcription	Placenta	Placenta
9	chr13:53228400-53232000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:53228400-53232000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:53228400-53233400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:53228400-53233400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr13:53228400-53234200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:53228400-53234200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr13:53228400-53234800	Weak transcription	Aorta	Aorta
16	chr13:53228400-53234800	Weak transcription	Fetal Intestine Small	intestine
17	chr13:53228400-53235400	Weak transcription	Lung	lung
18	chr13:53228400-53236200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:53228400-53236200	Weak transcription	HSMMtube	muscle
20	chr13:53228400-53242000	Weak transcription	Thymus	Thymus
21	chr13:53228400-53254600	Weak transcription	Colonic Mucosa	Colon
22	chr13:53228600-53232200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr13:53228600-53232400	Strong transcription	Primary B cells from cord blood	blood
24	chr13:53228600-53254600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:53228800-53231800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr13:53228800-53231800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr13:53228800-53231800	Weak transcription	Fetal Intestine Large	intestine
28	chr13:53228800-53232200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:53228800-53232400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:53228800-53232400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:53228800-53233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr13:53228800-53234400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:53228800-53234400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:53228800-53234400	Weak transcription	Psoas Muscle	Psoas
35	chr13:53228800-53234400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:53228800-53235000	Weak transcription	Fetal Stomach	stomach
37	chr13:53228800-53237600	Weak transcription	A549	lung
38	chr13:53228800-53240400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:53228800-53243400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:53228800-53244200	Strong transcription	HSMM	muscle
41	chr13:53229000-53232400	Weak transcription	K562	blood
42	chr13:53229000-53232600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:53229000-53234600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:53229000-53236200	Weak transcription	Fetal Kidney	kidney
45	chr13:53229000-53276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr13:53229200-53231800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:53229200-53234400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:53229200-53234400	Weak transcription	Primary T cells from cord blood	blood
49	chr13:53229200-53242800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr13:53229200-53247600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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