Variant report

Variant	esv1807209
Chromosome Location	chr20:41107678-41154898
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41106434..41108888-chr20:41112524..41115086,2	MCF-7	breast:
2	chr20:41098700..41100778-chr20:41109323..41111308,2	MCF-7	breast:
3	chr20:41112093..41113034-chr20:41158800..41160071,4	MCF-7	breast:
4	chr20:41083008..41085007-chr20:41112917..41114827,2	MCF-7	breast:
5	chr20:41123580..41125405-chr20:41126881..41128837,2	K562	blood:
6	chr20:41111361..41112918-chr20:41159329..41160293,5	MCF-7	breast:
7	chr20:41106434..41108888-chr20:41112524..41115086,2	MCF-7	breast:
8	chr1:115299136..115301683-chr20:41145782..41147834,2	MCF-7	breast:
9	chr20:41148020..41150135-chr20:41153331..41155714,2	K562	blood:
10	chr20:41153100..41156959-chr20:41167478..41169513,3	K562	blood:
11	chr1:115211782..115214223-chr20:41134419..41137022,2	MCF-7	breast:
12	chr20:41148020..41150135-chr20:41153331..41155714,2	K562	blood:
13	chr20:41112023..41112867-chr20:41307681..41308188,2	MCF-7	breast:
14	chr1:115299973..115301920-chr20:41130457..41133153,2	MCF-7	breast:
15	chr1:115342936..115345601-chr20:41151538..41153533,2	MCF-7	breast:
16	chr20:41150606..41154856-chr20:41155913..41160974,4	MCF-7	breast:
17	chr17:63119469..63120108-chr20:41117749..41118269,2	HCT-116	colon:
18	chr20:41123580..41125405-chr20:41126881..41128837,2	K562	blood:
19	chr20:41154320..41156959-chr20:41167704..41169513,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000009307	chromatin interactions
ENSG00000175984	chromatin interactions

Extended variants
information (count: 1087 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1087 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576845310	chr20:41107733-41107734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557189397	chr20:41107743-41107744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142431203	chr20:41107764-41107765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559621111	chr20:41107797-41107798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73273303	chr20:41107825-41107826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548537658	chr20:41107843-41107844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551876665	chr20:41107849-41107850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62204929	chr20:41107858-41107859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62204930	chr20:41107875-41107876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551303840	chr20:41107950-41107951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570426815	chr20:41107958-41107959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377041066	chr20:41107982-41107983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190964644	chr20:41107987-41107988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566487023	chr20:41108033-41108034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535635435	chr20:41108041-41108042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370946588	chr20:41108058-41108059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575406079	chr20:41108112-41108113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537715916	chr20:41108113-41108114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs230154	chr20:41108120-41108121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs126180	chr20:41108145-41108146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557168533	chr20:41108161-41108162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545830216	chr20:41108173-41108174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116395039	chr20:41108204-41108205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573300582	chr20:41108215-41108216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542310480	chr20:41108227-41108228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562099726	chr20:41108230-41108231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531142733	chr20:41108252-41108253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6065492	chr20:41108298-41108299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551267062	chr20:41108352-41108353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564797691	chr20:41108366-41108367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77437844	chr20:41108377-41108378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182676261	chr20:41108378-41108379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566465661	chr20:41108418-41108419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78393566	chr20:41108423-41108424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188142409	chr20:41108427-41108428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568932615	chr20:41108428-41108429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537678923	chr20:41108432-41108433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192733562	chr20:41108434-41108435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75831805	chr20:41108474-41108475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184370336	chr20:41108508-41108509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565194576	chr20:41108511-41108512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553042145	chr20:41108517-41108518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558658482	chr20:41108554-41108555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577332711	chr20:41108558-41108559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62204931	chr20:41108613-41108614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541922115	chr20:41108639-41108640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6093653	chr20:41108645-41108646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147688466	chr20:41108662-41108663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544854528	chr20:41108668-41108669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575038616	chr20:41108676-41108677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41099400-41112400	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:41111800-41113600	Enhancers	Fetal Brain Male	brain
3	chr20:41112000-41116200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr20:41112200-41112400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr20:41112200-41113400	Enhancers	Adipose Nuclei	Adipose
6	chr20:41112200-41113600	Enhancers	Brain Substantia Nigra	brain
7	chr20:41112200-41113600	Enhancers	Right Atrium	heart
8	chr20:41112200-41113800	Enhancers	Fetal Muscle Trunk	muscle
9	chr20:41112200-41114000	Enhancers	Brain Hippocampus Middle	brain
10	chr20:41112400-41112600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr20:41112400-41112600	Enhancers	Left Ventricle	heart
12	chr20:41112400-41112600	Enhancers	Lung	lung
13	chr20:41112400-41112600	Enhancers	Pancreas	Pancrea
14	chr20:41112400-41112800	Enhancers	Brain Germinal Matrix	brain
15	chr20:41112400-41113400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:41112400-41113400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr20:41112400-41113600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr20:41112400-41114000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:41112400-41114400	Enhancers	Fetal Muscle Leg	muscle
20	chr20:41112400-41115200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr20:41112600-41113000	Active TSS	Brain Angular Gyrus	brain
22	chr20:41112600-41113200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr20:41112600-41113400	Weak transcription	Pancreas	Pancrea
24	chr20:41112600-41113600	Weak transcription	Left Ventricle	heart
25	chr20:41112600-41113800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr20:41112800-41113200	Weak transcription	Brain Germinal Matrix	brain
27	chr20:41112800-41114600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr20:41113000-41113200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr20:41113000-41113400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr20:41113000-41113400	Enhancers	Fetal Lung	lung
31	chr20:41113000-41113400	Weak transcription	Lung	lung
32	chr20:41113000-41114800	Enhancers	Fetal Kidney	kidney
33	chr20:41113200-41113400	Enhancers	Brain Germinal Matrix	brain
34	chr20:41113200-41113800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr20:41113400-41113600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr20:41113400-41113600	Enhancers	Lung	lung
37	chr20:41113400-41113600	Enhancers	Pancreas	Pancrea
38	chr20:41113400-41113800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr20:41113400-41114200	Weak transcription	Brain Germinal Matrix	brain
40	chr20:41113400-41114400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr20:41113600-41113800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:41113600-41113800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr20:41113600-41113800	Enhancers	Left Ventricle	heart
44	chr20:41113600-41125600	Weak transcription	Pancreas	Pancrea
45	chr20:41113800-41114000	Weak transcription	Lung	lung
46	chr20:41113800-41114400	Enhancers	Adipose Nuclei	Adipose
47	chr20:41113800-41114600	Weak transcription	Left Ventricle	heart
48	chr20:41114000-41114600	Weak transcription	Brain Hippocampus Middle	brain
49	chr20:41114200-41114400	Enhancers	Liver	Liver
50	chr20:41114200-41114400	Enhancers	Brain Germinal Matrix	brain

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