Variant report

Variant	esv3454543
Chromosome Location	chr20:16221742-16222420
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	chr20:16216245..16219202-chr20:16220225..16222691,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529611317	chr20:16221787-16221788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144038169	chr20:16221790-16221791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111581649	chr20:16221805-16221806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113764929	chr20:16221818-16221819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538436766	chr20:16221832-16221833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532840848	chr20:16221841-16221842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146259684	chr20:16221849-16221850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180850993	chr20:16221857-16221858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372371546	chr20:16221861-16221862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531031403	chr20:16221865-16221866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549365969	chr20:16221877-16221878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567960438	chr20:16221880-16221881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535050482	chr20:16221909-16221910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368205124	chr20:16221933-16221934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546973089	chr20:16221966-16221967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6135714	chr20:16221988-16221989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73106376	chr20:16222009-16222010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116268776	chr20:16222013-16222014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143969962	chr20:16222048-16222049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6131805	chr20:16222093-16222094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537257866	chr20:16222174-16222175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555312683	chr20:16222203-16222204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573875024	chr20:16222205-16222206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540995023	chr20:16222206-16222207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375170762	chr20:16222209-16222210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571711032	chr20:16222235-16222236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146464804	chr20:16222236-16222237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537667474	chr20:16222255-16222256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544676053	chr20:16222283-16222284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551267521	chr20:16222285-16222286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139513666	chr20:16222286-16222287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530970344	chr20:16222287-16222288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543198966	chr20:16222293-16222294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183925416	chr20:16222366-16222367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34407892	chr20:16222375-16222376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2788910	chr20:16222404-16222405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16217400-16226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:16218200-16224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:16220000-16224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:16222000-16222400	Enhancers	Fetal Brain Male	brain
5	chr20:16222000-16222800	Enhancers	Brain Cingulate Gyrus	brain
6	chr20:16222000-16223000	Enhancers	Primary B cells from peripheral blood	blood
7	chr20:16222400-16222600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr20:16222400-16223000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links