Variant report

Variant	esv3392579
Chromosome Location	chr13:110758851-110763149
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:109567424..109568073-chr13:110760960..110761768,2	MCF-7	breast:
2	chr13:110651999..110652742-chr13:110760981..110761503,2	MCF-7	breast:
3	chr13:110760613..110762563-chr13:110777021..110779083,2	MCF-7	breast:
4	chr13:110761020..110763183-chr13:110765963..110768234,2	MCF-7	breast:
5	chr13:110417399..110417917-chr13:110760942..110761494,2	MCF-7	breast:
6	chr13:110443953..110447179-chr13:110758507..110762069,3	MCF-7	breast:
7	chr13:110654511..110656415-chr13:110759069..110761693,2	MCF-7	breast:
8	chr13:109613700..109614457-chr13:110760895..110761419,2	MCF-7	breast:
9	chr13:110436205..110441713-chr13:110758837..110762777,7	MCF-7	breast:
10	chr13:110436096..110439350-chr13:110760184..110763012,5	MCF-7	breast:
11	chr13:110583476..110584263-chr13:110760363..110760981,2	MCF-7	breast:
12	chr13:110753728..110755942-chr13:110757866..110759784,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185950	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs576299544	chr13:110758854-110758855	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548437985	chr13:110758870-110758871	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562327957	chr13:110758892-110758893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573972260	chr13:110758924-110758925	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199928465	chr13:110758930-110758931	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186693397	chr13:110758947-110758948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551136589	chr13:110758982-110758983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570894658	chr13:110759053-110759054	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs8181831	chr13:110759074-110759075	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555501267	chr13:110759083-110759084	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547028587	chr13:110759093-110759094	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566840620	chr13:110759125-110759126	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192676334	chr13:110759126-110759127	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555404877	chr13:110759129-110759130	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575479713	chr13:110759252-110759253	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9588095	chr13:110759259-110759260	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76621166	chr13:110759289-110759290	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557930203	chr13:110759317-110759318	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371971197	chr13:110759318-110759319	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573760307	chr13:110759325-110759326	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113685931	chr13:110759329-110759330	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189305775	chr13:110759340-110759341	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181931146	chr13:110759372-110759373	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369821806	chr13:110759373-110759374	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535743976	chr13:110759381-110759382	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565041700	chr13:110759418-110759419	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562857361	chr13:110759424-110759425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542191946	chr13:110759425-110759426	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11365848	chr13:110759521-110759522	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs398077598	chr13:110759524-110759525	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs397808596	chr13:110759525-110759526	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201866876	chr13:110759526-110759527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550629745	chr13:110759540-110759541	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531225726	chr13:110759639-110759640	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544523321	chr13:110759653-110759654	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564663367	chr13:110759654-110759655	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148400154	chr13:110759658-110759659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185055242	chr13:110759677-110759678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74124150	chr13:110759708-110759709	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4773124	chr13:110759711-110759712	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs549349923	chr13:110759724-110759725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544998140	chr13:110759760-110759761	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569105716	chr13:110759825-110759826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74632902	chr13:110759855-110759856	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555102186	chr13:110759859-110759860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557676346	chr13:110759899-110759900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112743638	chr13:110759922-110759923	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560154367	chr13:110759960-110759961	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533662883	chr13:110759997-110759998	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189900854	chr13:110760000-110760001	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Glioma	20126413	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110755400-110760000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:110756200-110759000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:110756400-110761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:110756600-110760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110756800-110761200	Weak transcription	NHEK	skin
6	chr13:110757000-110759600	Enhancers	Pancreas	Pancrea
7	chr13:110757000-110761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:110757200-110759000	Enhancers	Stomach Smooth Muscle	stomach
9	chr13:110757200-110759800	Enhancers	Fetal Heart	heart
10	chr13:110757200-110759800	Enhancers	Left Ventricle	heart
11	chr13:110757200-110761000	Weak transcription	HMEC	breast
12	chr13:110757200-110761200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:110757400-110759200	Enhancers	Right Atrium	heart
14	chr13:110757400-110760800	Weak transcription	Lung	lung
15	chr13:110757600-110759000	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:110757600-110759600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:110757800-110759000	Weak transcription	Right Ventricle	heart
18	chr13:110757800-110761600	Weak transcription	Brain Substantia Nigra	brain
19	chr13:110757800-110761600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:110758400-110759000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:110758400-110759600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr13:110758400-110759800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:110758400-110760000	Enhancers	Colon Smooth Muscle	Colon
24	chr13:110758400-110760000	Enhancers	Rectal Smooth Muscle	rectum
25	chr13:110758400-110761800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr13:110758600-110759400	Enhancers	Adipose Nuclei	Adipose
27	chr13:110758600-110759400	Enhancers	Fetal Lung	lung
28	chr13:110758600-110759400	Weak transcription	Fetal Stomach	stomach
29	chr13:110758600-110759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:110758600-110761400	Weak transcription	Placenta	Placenta
31	chr13:110758800-110759200	Enhancers	Aorta	Aorta
32	chr13:110758800-110759600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:110758800-110759600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:110758800-110759600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:110758800-110759800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:110758800-110760400	Enhancers	Liver	Liver
37	chr13:110759000-110759400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:110759000-110759400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:110759000-110759400	Enhancers	Fetal Muscle Leg	muscle
40	chr13:110759000-110759600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:110759000-110759600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:110759000-110759600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:110759000-110759600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:110759000-110759600	Enhancers	Brain Anterior Caudate	brain
45	chr13:110759000-110759600	Enhancers	Brain Germinal Matrix	brain
46	chr13:110759000-110759600	Enhancers	Fetal Muscle Trunk	muscle
47	chr13:110759000-110759800	Enhancers	Right Ventricle	heart
48	chr13:110759000-110760000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr13:110759200-110759600	Enhancers	Fetal Brain Female	brain
50	chr13:110759200-110759800	Enhancers	HSMM	muscle

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