Variant report

Variant	esv3454734
Chromosome Location	chr20:1380804-1384028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1381373..1382886-chr3:14269798..14272638,2	MCF-7	breast:
2	chr20:1370285..1375864-chr20:1379539..1381577,4	K562	blood:

Variant related genes	Relation type
ENSG00000088832	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145351054	chr20:1380811-1380812	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140541661	chr20:1380817-1380818	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78682823	chr20:1380833-1380834	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56035174	chr20:1380843-1380844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577889840	chr20:1380852-1380853	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116190266	chr20:1380865-1380866	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113002144	chr20:1380875-1380876	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6033659	chr20:1380901-1380902	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543110180	chr20:1380986-1380987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs59681252	chr20:1381026-1381027	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528501040	chr20:1381040-1381041	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545140194	chr20:1381049-1381050	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141842912	chr20:1381136-1381137	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6033660	chr20:1381196-1381197	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115331550	chr20:1381202-1381203	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182885331	chr20:1381204-1381205	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567468162	chr20:1381252-1381253	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529869862	chr20:1381268-1381269	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113083653	chr20:1381269-1381270	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188427616	chr20:1381277-1381278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147601833	chr20:1381297-1381298	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140422570	chr20:1381326-1381327	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142095093	chr20:1381385-1381386	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116954419	chr20:1381450-1381451	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191300752	chr20:1381493-1381494	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369831932	chr20:1381518-1381519	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182876503	chr20:1381556-1381557	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2317648	chr20:1381564-1381565	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs111974185	chr20:1381573-1381574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140072064	chr20:1381576-1381577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs57707399	chr20:1381645-1381646	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs565266744	chr20:1381654-1381655	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs55775852	chr20:1381658-1381659	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs202013108	chr20:1381683-1381684	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377515647	chr20:1381684-1381685	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs57370816	chr20:1381685-1381686	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs369654504	chr20:1381688-1381689	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs6042000	chr20:1381694-1381695	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150496366	chr20:1381736-1381737	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs2092877	chr20:1381740-1381741	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141386089	chr20:1381747-1381748	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs566590712	chr20:1381754-1381755	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs188392524	chr20:1381762-1381763	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs375227008	chr20:1381796-1381797	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs552190813	chr20:1381828-1381829	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs568516415	chr20:1381832-1381833	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs2092878	chr20:1381858-1381859	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557246529	chr20:1381864-1381865	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs2092879	chr20:1381878-1381879	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149381597	chr20:1381917-1381918	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1374400-1381400	Weak transcription	Gastric	stomach
2	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
5	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
11	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
12	chr20:1378800-1383200	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:1379000-1382000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr20:1379200-1382800	Weak transcription	Dnd41	blood
15	chr20:1379600-1381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:1379600-1382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:1379600-1383400	Enhancers	HMEC	breast
18	chr20:1379600-1383800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:1379800-1381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:1380000-1381200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr20:1380000-1384400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:1380200-1381000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr20:1380200-1381200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:1380200-1381400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:1380200-1381400	Enhancers	Stomach Mucosa	stomach
26	chr20:1380400-1381000	Flanking Active TSS	HepG2	liver
27	chr20:1380400-1381000	Enhancers	HSMMtube	muscle
28	chr20:1380400-1381200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr20:1380400-1381400	Weak transcription	Colonic Mucosa	Colon
30	chr20:1380400-1382200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:1380400-1382600	Enhancers	HSMM	muscle
32	chr20:1380400-1382600	Enhancers	NH-A	brain
33	chr20:1380400-1383200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:1380400-1383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr20:1380400-1383600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr20:1380400-1383600	Enhancers	Osteobl	bone
37	chr20:1380600-1381000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:1380600-1381000	Enhancers	Hela-S3	cervix
39	chr20:1380600-1381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr20:1380600-1381400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:1380600-1381400	Enhancers	NHLF	lung
42	chr20:1380600-1381600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr20:1380600-1381800	Weak transcription	Small Intestine	intestine
44	chr20:1380600-1382400	Enhancers	NHDF-Ad	bronchial
45	chr20:1380600-1383600	Enhancers	Liver	Liver
46	chr20:1380600-1383800	Enhancers	NHEK	skin
47	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr20:1380800-1381000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:1380800-1381000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr20:1380800-1381200	Weak transcription	Placenta	Placenta

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