Variant report

Variant	esv3493811
Chromosome Location	chr20:23103424-23104625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23102523..23105175-chr20:23127807..23130561,3	K562	blood:
2	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
3	chr20:23087953..23091765-chr20:23104298..23106744,4	K562	blood:
4	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:
5	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
6	chr20:23103723..23106528-chr20:23107935..23111054,5	K562	blood:

Variant related genes	Relation type
ENSG00000233746	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370799214	chr20:23103497-23103498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533632981	chr20:23103542-23103543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139344589	chr20:23103632-23103633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs80182235	chr20:23103659-23103660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373520619	chr20:23103676-23103677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182842221	chr20:23103683-23103684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145031032	chr20:23103693-23103694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75973779	chr20:23103723-23103724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576802611	chr20:23103738-23103739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542281039	chr20:23103800-23103801	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555460043	chr20:23103817-23103818	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572530545	chr20:23103822-23103823	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541187184	chr20:23103864-23103865	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs844881	chr20:23103867-23103868	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576632113	chr20:23103868-23103869	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs946369	chr20:23103870-23103871	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562482901	chr20:23103871-23103872	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531488006	chr20:23103916-23103917	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138872786	chr20:23103939-23103940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531317924	chr20:23103965-23103966	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561553691	chr20:23103969-23103970	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370129113	chr20:23103973-23103974	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6137834	chr20:23103976-23103977	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549432405	chr20:23103983-23103984	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570986223	chr20:23103988-23103989	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368011537	chr20:23104029-23104030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140660997	chr20:23104042-23104043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540082116	chr20:23104043-23104044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78871298	chr20:23104044-23104045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs57958921	chr20:23104065-23104066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529882761	chr20:23104076-23104077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555997264	chr20:23104083-23104084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187746618	chr20:23104092-23104093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117594622	chr20:23104119-23104120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558016103	chr20:23104124-23104125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577708770	chr20:23104165-23104166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555190179	chr20:23104167-23104168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545629293	chr20:23104215-23104216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs8122415	chr20:23104218-23104219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540962939	chr20:23104326-23104327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577534230	chr20:23104415-23104416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35870755	chr20:23104487-23104488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs844882	chr20:23104521-23104522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541776959	chr20:23104523-23104524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542706871	chr20:23104529-23104530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562668222	chr20:23104543-23104544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192737591	chr20:23104598-23104599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs844883	chr20:23104607-23104608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Cancer	20164919	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
3	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:23099800-23105400	Weak transcription	Gastric	stomach
6	chr20:23100000-23104000	Weak transcription	GM12878-XiMat	blood
7	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
8	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon
9	chr20:23101000-23104400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:23101000-23104600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:23101200-23105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr20:23101200-23106600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:23101200-23109400	Weak transcription	Liver	Liver
14	chr20:23101400-23105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr20:23101400-23106000	Weak transcription	Adipose Nuclei	Adipose
16	chr20:23101600-23104600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr20:23101800-23106000	Weak transcription	Left Ventricle	heart
18	chr20:23101800-23109200	Weak transcription	Right Ventricle	heart
19	chr20:23102000-23104600	Weak transcription	Esophagus	oesophagus
20	chr20:23102000-23105800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:23102000-23105800	Weak transcription	Lung	lung
22	chr20:23102000-23106200	Weak transcription	Right Atrium	heart
23	chr20:23102000-23106600	Weak transcription	Spleen	Spleen
24	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr20:23102800-23105000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr20:23103200-23104600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr20:23103200-23104600	Enhancers	Dnd41	blood
28	chr20:23103200-23105400	Weak transcription	K562	blood
29	chr20:23103200-23105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:23103200-23105800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:23103200-23106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:23103200-23106400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:23103200-23109800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr20:23103400-23104000	Enhancers	Primary B cells from cord blood	blood
35	chr20:23103800-23104000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr20:23104000-23105400	Enhancers	GM12878-XiMat	blood
37	chr20:23104000-23105800	Weak transcription	Primary B cells from cord blood	blood
38	chr20:23104000-23108000	Enhancers	Fetal Muscle Trunk	muscle
39	chr20:23104200-23106000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr20:23104400-23105200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:23104600-23104800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr20:23104600-23105000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:23104600-23105000	Flanking Active TSS	Dnd41	blood
44	chr20:23104600-23106800	Enhancers	Esophagus	oesophagus
45	chr20:23104600-23106800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr20:23104600-23107200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr20:23104600-23111600	Enhancers	Primary monocytes fromperipheralblood	blood

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