Variant report

Variant	esv3437211
Chromosome Location	chr20:1280452-1285150
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
2	chr20:1283698..1286846-chr20:1286878..1289632,3	K562	blood:
3	chr20:1205295..1208138-chr20:1282456..1285112,2	K562	blood:
4	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
5	chr20:1196637..1198683-chr20:1279227..1282045,2	K562	blood:
6	chr20:1281423..1283535-chr20:1306063..1308157,2	K562	blood:
7	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
8	chr20:1279250..1281881-chr20:1447982..1450441,2	K562	blood:
9	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
10	chr20:1271210..1274105-chr20:1276784..1280464,4	K562	blood:
11	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
12	chr20:1272718..1276817-chr20:1277279..1280817,5	MCF-7	breast:
13	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125775	chromatin interactions
ENSG00000088833	chromatin interactions
ENSG00000244588	chromatin interactions
ENSG00000234684	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs560528124	chr20:1280483-1280484	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191849879	chr20:1280498-1280499	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545670286	chr20:1280504-1280505	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376201527	chr20:1280519-1280520	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562374445	chr20:1280524-1280525	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6134505	chr20:1280528-1280529	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531414652	chr20:1280530-1280531	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547951115	chr20:1280581-1280582	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573156180	chr20:1280583-1280584	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568063050	chr20:1280585-1280586	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527342122	chr20:1280614-1280615	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143874821	chr20:1280680-1280681	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140268726	chr20:1280705-1280706	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538994126	chr20:1280721-1280722	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541097630	chr20:1280741-1280742	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569538356	chr20:1280784-1280785	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6033370	chr20:1280925-1280926	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182557808	chr20:1280937-1280938	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531045402	chr20:1280940-1280941	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7274441	chr20:1280976-1280977	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3795142	chr20:1280995-1280996	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs3795141	chr20:1281004-1281005	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548653589	chr20:1281055-1281056	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142983142	chr20:1281059-1281060	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117549063	chr20:1281109-1281110	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116904671	chr20:1281115-1281116	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144944552	chr20:1281127-1281128	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187905885	chr20:1281131-1281132	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13038271	chr20:1281142-1281143	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200870625	chr20:1281193-1281194	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561912990	chr20:1281194-1281195	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139099290	chr20:1281207-1281208	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201726167	chr20:1281223-1281224	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368468541	chr20:1281231-1281232	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372417908	chr20:1281257-1281258	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527444719	chr20:1281258-1281259	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149472310	chr20:1281263-1281264	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562927965	chr20:1281306-1281307	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144799518	chr20:1281311-1281312	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563962624	chr20:1281332-1281333	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200090859	chr20:1281343-1281344	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565691358	chr20:1281355-1281356	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372651789	chr20:1281362-1281363	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200172800	chr20:1281371-1281372	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549775603	chr20:1281377-1281378	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370145508	chr20:1281391-1281392	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563389622	chr20:1281497-1281498	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs193033625	chr20:1281528-1281529	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs538528910	chr20:1281552-1281553	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs147533012	chr20:1281556-1281557	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1248200-1281200	Weak transcription	NHEK	skin
2	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
4	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
5	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
6	chr20:1267200-1281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:1267400-1281000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr20:1267600-1281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:1267800-1281000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr20:1268200-1280600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr20:1268200-1280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
13	chr20:1269400-1283200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
15	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
16	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr20:1272400-1281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:1272400-1281200	Weak transcription	Osteobl	bone
19	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
20	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:1272800-1281200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:1272800-1283400	Weak transcription	HSMMtube	muscle
23	chr20:1273000-1281200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr20:1274600-1282200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr20:1274800-1280600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
28	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
30	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
32	chr20:1276000-1280800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:1276200-1281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr20:1277200-1281000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr20:1277400-1280600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:1278000-1281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
39	chr20:1278800-1281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr20:1278800-1281200	Strong transcription	NHLF	lung
41	chr20:1278800-1283600	Weak transcription	Fetal Brain Female	brain
42	chr20:1279000-1281200	Weak transcription	Primary T cells from cord blood	blood
43	chr20:1279400-1281600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr20:1279400-1282000	Strong transcription	Brain Anterior Caudate	brain
45	chr20:1279600-1280600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:1279600-1280600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr20:1279600-1281200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr20:1279800-1281000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr20:1279800-1282000	Strong transcription	Fetal Stomach	stomach
50	chr20:1280000-1280800	Genic enhancers	Spleen	Spleen

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