Variant report

Variant	esv32627
Chromosome Location	chr13:110515211-110524579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110521072..110521899-chr13:110651072..110651611,2	MCF-7	breast:
2	chr13:110516111..110518127-chr13:110519697..110522544,3	MCF-7	breast:
3	chr13:110516111..110518127-chr13:110519697..110522544,3	MCF-7	breast:
4	chr13:110512487..110514318-chr13:110516498..110518494,2	K562	blood:

Extended variants
information (count: 403 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117854266	chr13:110515222-110515223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569992980	chr13:110515229-110515230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs336225	chr13:110515263-110515264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564546602	chr13:110515278-110515279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73612810	chr13:110515319-110515320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112565084	chr13:110515363-110515364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541072302	chr13:110515373-110515374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554379626	chr13:110515387-110515388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534214803	chr13:110515396-110515397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79679117	chr13:110515407-110515408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554092223	chr13:110515433-110515434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543064508	chr13:110515438-110515439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138958974	chr13:110515444-110515445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531916346	chr13:110515496-110515497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142881707	chr13:110515507-110515508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146376508	chr13:110515548-110515549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546022909	chr13:110515566-110515567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73612812	chr13:110515601-110515602	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73612813	chr13:110515680-110515681	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567699608	chr13:110515681-110515682	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs574180903	chr13:110515710-110515711	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs181345727	chr13:110515713-110515714	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs550232585	chr13:110515748-110515749	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs73612814	chr13:110515805-110515806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538903860	chr13:110515813-110515814	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs150841358	chr13:110515885-110515886	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs188321106	chr13:110515889-110515890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs180845755	chr13:110515923-110515924	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs554648450	chr13:110515960-110515961	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs386774644	chr13:110515962-110515963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs114752469	chr13:110515963-110515964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs138202759	chr13:110516009-110516010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186590719	chr13:110516015-110516016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80111186	chr13:110516055-110516056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565479315	chr13:110516080-110516081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59747359	chr13:110516102-110516103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7328181	chr13:110516130-110516131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374742464	chr13:110516133-110516134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561418275	chr13:110516134-110516135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183583399	chr13:110516141-110516142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74378449	chr13:110516185-110516186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73612815	chr13:110516227-110516228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532558179	chr13:110516243-110516244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540259435	chr13:110516281-110516282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187037444	chr13:110516304-110516305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs336224	chr13:110516306-110516307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs115675586	chr13:110516317-110516318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567929598	chr13:110516366-110516367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113087682	chr13:110516454-110516455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556641634	chr13:110516456-110516457	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110514000-110516000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:110514200-110515600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:110514200-110515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:110514200-110515800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:110514200-110516000	Enhancers	HMEC	breast
6	chr13:110514400-110515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:110514400-110516000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:110514400-110516000	Enhancers	NHEK	skin
9	chr13:110514400-110516200	Enhancers	Placenta	Placenta
10	chr13:110514600-110515600	Enhancers	HSMM	muscle
11	chr13:110514600-110515800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:110514600-110515800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:110514800-110515400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:110514800-110515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:110515200-110515600	Enhancers	NH-A	brain
16	chr13:110515200-110515600	Enhancers	NHLF	lung
17	chr13:110515600-110515800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:110515600-110516000	Bivalent Enhancer	Esophagus	oesophagus
19	chr13:110515600-110519000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:110515600-110521000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:110515600-110521200	Weak transcription	HSMM	muscle
22	chr13:110515800-110520200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:110515800-110520200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:110515800-110520800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:110515800-110521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:110515800-110521200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:110516000-110521600	Weak transcription	NHEK	skin
28	chr13:110516000-110523400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:110516200-110520800	Weak transcription	Placenta	Placenta
30	chr13:110519000-110521800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:110520000-110521200	Enhancers	Pancreas	Pancrea
32	chr13:110520000-110521600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:110520200-110521400	Enhancers	A549	lung
34	chr13:110520200-110521600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:110520200-110521600	Enhancers	Rectal Smooth Muscle	rectum
36	chr13:110520200-110521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:110520200-110521800	Enhancers	Small Intestine	intestine
38	chr13:110520200-110522200	Enhancers	Hela-S3	cervix
39	chr13:110520400-110521400	Enhancers	Duodenum Mucosa	Duodenum
40	chr13:110520600-110521800	Enhancers	Liver	Liver
41	chr13:110520800-110521000	Enhancers	Brain Germinal Matrix	brain
42	chr13:110520800-110521000	Enhancers	Left Ventricle	heart
43	chr13:110520800-110521000	Enhancers	Lung	lung
44	chr13:110520800-110521600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:110520800-110521600	Enhancers	Fetal Intestine Small	intestine
46	chr13:110520800-110521800	Enhancers	Placenta	Placenta
47	chr13:110521000-110521200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:110521000-110521200	Bivalent/Poised TSS	Fetal Lung	lung
49	chr13:110521000-110521200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr13:110521000-110521200	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links