Variant report

Variant	esv3326510
Chromosome Location	chr20:24086035-24086320
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	chr20:24084790..24086401-chr20:24090603..24093438,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146892064	chr20:24086060-24086061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112848153	chr20:24086112-24086113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558470139	chr20:24086115-24086116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572875142	chr20:24086122-24086123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571153015	chr20:24086125-24086126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537055925	chr20:24086131-24086132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556602105	chr20:24086142-24086143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6049402	chr20:24086195-24086196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542387625	chr20:24086198-24086199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112975918	chr20:24086205-24086206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8115661	chr20:24086220-24086221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544968791	chr20:24086226-24086227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140704624	chr20:24086231-24086232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113977135	chr20:24086273-24086274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183273187	chr20:24086305-24086306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24082600-24088000	Enhancers	HUVEC	blood vessel
2	chr20:24083400-24096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24083600-24086200	Weak transcription	HMEC	breast
4	chr20:24084000-24086600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:24084400-24086200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:24084400-24086200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:24085200-24087400	Weak transcription	Liver	Liver
8	chr20:24085800-24086200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:24085800-24087400	Enhancers	NHEK	skin
10	chr20:24086000-24087400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:24086000-24087400	Enhancers	NH-A	brain
12	chr20:24086000-24087400	Enhancers	Osteobl	bone
13	chr20:24086200-24087000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:24086200-24087400	Enhancers	HMEC	breast
15	chr20:24086200-24087600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:24086200-24088000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links