Variant report

Variant	esv3441111
Chromosome Location	chr20:1281052-1284350
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
4	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
5	chr20:1281423..1283535-chr20:1306063..1308157,2	K562	blood:
6	chr20:1205295..1208138-chr20:1282456..1285112,2	K562	blood:
7	chr20:1196637..1198683-chr20:1279227..1282045,2	K562	blood:
8	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:
9	chr20:1279250..1281881-chr20:1447982..1450441,2	K562	blood:
10	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
11	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:

No data

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

Extended variants
information (count: 134 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548653589	chr20:1281055-1281056	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142983142	chr20:1281059-1281060	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117549063	chr20:1281109-1281110	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116904671	chr20:1281115-1281116	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144944552	chr20:1281127-1281128	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187905885	chr20:1281131-1281132	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13038271	chr20:1281142-1281143	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200870625	chr20:1281193-1281194	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561912990	chr20:1281194-1281195	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139099290	chr20:1281207-1281208	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201726167	chr20:1281223-1281224	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368468541	chr20:1281231-1281232	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372417908	chr20:1281257-1281258	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527444719	chr20:1281258-1281259	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149472310	chr20:1281263-1281264	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562927965	chr20:1281306-1281307	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144799518	chr20:1281311-1281312	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563962624	chr20:1281332-1281333	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200090859	chr20:1281343-1281344	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565691358	chr20:1281355-1281356	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372651789	chr20:1281362-1281363	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200172800	chr20:1281371-1281372	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549775603	chr20:1281377-1281378	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370145508	chr20:1281391-1281392	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563389622	chr20:1281497-1281498	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs193033625	chr20:1281528-1281529	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538528910	chr20:1281552-1281553	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs147533012	chr20:1281556-1281557	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs112412263	chr20:1281577-1281578	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548846035	chr20:1281596-1281597	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs568616858	chr20:1281601-1281602	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534066237	chr20:1281604-1281605	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs185779018	chr20:1281618-1281619	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577235297	chr20:1281623-1281624	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112992007	chr20:1281669-1281670	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs539448546	chr20:1281677-1281678	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs140116102	chr20:1281683-1281684	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs3818331	chr20:1281685-1281686	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541720236	chr20:1281760-1281761	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs78642485	chr20:1281766-1281767	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs572192623	chr20:1281778-1281779	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs116196632	chr20:1281788-1281789	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs111248465	chr20:1281791-1281792	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs533012899	chr20:1281854-1281855	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs142920674	chr20:1281859-1281860	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs6078505	chr20:1281906-1281907	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532071866	chr20:1281911-1281912	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs548848460	chr20:1281950-1281951	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188892275	chr20:1281963-1281964	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548268018	chr20:1281990-1281991	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	2 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:244 , 50 per page) page: 1 2 3 4 5

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	chr20:1267600-1281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
9	chr20:1269400-1283200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
11	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
12	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr20:1272400-1281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:1272400-1281200	Weak transcription	Osteobl	bone
15	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
16	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:1272800-1281200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:1272800-1283400	Weak transcription	HSMMtube	muscle
19	chr20:1273000-1281200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr20:1274600-1282200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
23	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
25	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
27	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr20:1278000-1281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
30	chr20:1278800-1281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:1278800-1281200	Strong transcription	NHLF	lung
32	chr20:1278800-1283600	Weak transcription	Fetal Brain Female	brain
33	chr20:1279000-1281200	Weak transcription	Primary T cells from cord blood	blood
34	chr20:1279400-1281600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:1279400-1282000	Strong transcription	Brain Anterior Caudate	brain
36	chr20:1279600-1281200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr20:1279800-1282000	Strong transcription	Fetal Stomach	stomach
38	chr20:1280000-1281400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr20:1280000-1281600	Genic enhancers	Brain Inferior Temporal Lobe	brain
40	chr20:1280000-1282000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr20:1280000-1282200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr20:1280000-1282200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr20:1280000-1282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr20:1280000-1282200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr20:1280000-1282200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr20:1280200-1281800	Genic enhancers	Gastric	stomach
47	chr20:1280200-1282200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr20:1280200-1282200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr20:1280200-1282200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr20:1280400-1281200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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