Variant report

Variant	esv3402233
Chromosome Location	chr20:23101352-23105550
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23105413..23107552-chr20:23159018..23161237,2	K562	blood:
2	chr20:23103723..23106528-chr20:23107935..23111054,5	K562	blood:
3	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
4	chr20:23087953..23091765-chr20:23104298..23106744,4	K562	blood:
5	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
6	chr20:23095163..23098462-chr20:23100135..23102327,3	K562	blood:
7	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
8	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:
9	chr20:23099688..23102683-chr20:23112408..23115476,3	K562	blood:
10	chr20:23102523..23105175-chr20:23127807..23130561,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233746	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs566498078	chr20:23101357-23101358	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558539208	chr20:23101389-23101390	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs844871	chr20:23101392-23101393	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564601750	chr20:23101421-23101422	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531016793	chr20:23101432-23101433	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544352409	chr20:23101435-23101436	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527319244	chr20:23101440-23101441	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147589321	chr20:23101459-23101460	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80281156	chr20:23101498-23101499	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539405276	chr20:23101509-23101510	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370808700	chr20:23101510-23101511	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546711998	chr20:23101534-23101535	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188969943	chr20:23101550-23101551	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs844872	chr20:23101571-23101572	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs532370440	chr20:23101582-23101583	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35110428	chr20:23101595-23101596	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113598554	chr20:23101628-23101629	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185252113	chr20:23101678-23101679	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537292745	chr20:23101680-23101681	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74582442	chr20:23101725-23101726	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367597955	chr20:23101736-23101737	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536528310	chr20:23101744-23101745	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188905643	chr20:23101746-23101747	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572810481	chr20:23101755-23101756	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371344892	chr20:23101791-23101792	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs844873	chr20:23101792-23101793	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs76679542	chr20:23101813-23101814	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540907580	chr20:23101831-23101832	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574991736	chr20:23101852-23101853	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199665373	chr20:23101862-23101863	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544443070	chr20:23101864-23101865	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561129076	chr20:23101868-23101869	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192163815	chr20:23101877-23101878	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184050094	chr20:23101908-23101909	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188737604	chr20:23101958-23101959	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554107167	chr20:23101964-23101965	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532540386	chr20:23101965-23101966	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs844874	chr20:23101968-23101969	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559197326	chr20:23101971-23101972	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546308184	chr20:23101974-23101975	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140463281	chr20:23102000-23102001	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144455598	chr20:23102018-23102019	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180822396	chr20:23102077-23102078	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550825001	chr20:23102091-23102092	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186058114	chr20:23102092-23102093	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs844875	chr20:23102106-23102107	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376576885	chr20:23102173-23102174	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs844876	chr20:23102182-23102183	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs538673730	chr20:23102201-23102202	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558121573	chr20:23102212-23102213	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23093000-23103200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23096000-23102600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:23097200-23102000	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23097600-23101400	Weak transcription	K562	blood
6	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
7	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:23098800-23101600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:23098800-23102000	Enhancers	Spleen	Spleen
10	chr20:23099200-23101600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:23099200-23102000	Enhancers	Esophagus	oesophagus
12	chr20:23099600-23101400	Enhancers	Adipose Nuclei	Adipose
13	chr20:23099600-23101400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr20:23099600-23101800	Enhancers	Left Ventricle	heart
15	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr20:23099800-23101400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:23099800-23105400	Weak transcription	Gastric	stomach
18	chr20:23100000-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr20:23100000-23104000	Weak transcription	GM12878-XiMat	blood
20	chr20:23100200-23102000	Enhancers	Right Atrium	heart
21	chr20:23100200-23102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr20:23100200-23103400	Weak transcription	Primary B cells from cord blood	blood
23	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
24	chr20:23100400-23101400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr20:23100400-23102000	Enhancers	Lung	lung
26	chr20:23100400-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon
28	chr20:23100600-23103200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:23100600-23103200	Flanking Active TSS	Dnd41	blood
30	chr20:23100800-23101600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr20:23100800-23101800	Enhancers	Right Ventricle	heart
32	chr20:23101000-23101800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr20:23101000-23104400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:23101000-23104600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:23101200-23105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr20:23101200-23106600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr20:23101200-23109400	Weak transcription	Liver	Liver
38	chr20:23101400-23101800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr20:23101400-23102000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr20:23101400-23103200	Enhancers	K562	blood
41	chr20:23101400-23105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr20:23101400-23106000	Weak transcription	Adipose Nuclei	Adipose
43	chr20:23101600-23102400	Enhancers	Thymus	Thymus
44	chr20:23101600-23103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:23101600-23103200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:23101600-23104600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr20:23101800-23102000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr20:23101800-23102000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:23101800-23102000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr20:23101800-23106000	Weak transcription	Left Ventricle	heart

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