Variant report

Variant	esv2754713
Chromosome Location	chr20:15785800-15816800
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	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:
2	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:

Extended variants
information (count: 1064 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1064 , 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	rs6135542	chr20:15785801-15785802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17633270	chr20:15785838-15785839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116159868	chr20:15785853-15785854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533844976	chr20:15785879-15785880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147000803	chr20:15785928-15785929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192024443	chr20:15785934-15785935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184131426	chr20:15785935-15785936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569353090	chr20:15785960-15785961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551869880	chr20:15785963-15785964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570184070	chr20:15786000-15786001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188528843	chr20:15786066-15786067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556083408	chr20:15786068-15786069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73246167	chr20:15786094-15786095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs8118396	chr20:15786118-15786119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11336153	chr20:15786125-15786126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545573846	chr20:15786204-15786205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566028949	chr20:15786262-15786263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554083124	chr20:15786265-15786266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11697766	chr20:15786275-15786276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113435474	chr20:15786290-15786291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181096992	chr20:15786301-15786302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368548455	chr20:15786310-15786311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184379981	chr20:15786319-15786320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189308311	chr20:15786321-15786322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543545407	chr20:15786372-15786373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562159946	chr20:15786374-15786375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529250756	chr20:15786378-15786379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141921747	chr20:15786399-15786400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549167847	chr20:15786426-15786427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7352531	chr20:15786428-15786429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533369697	chr20:15786429-15786430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551510743	chr20:15786447-15786448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76354155	chr20:15786453-15786454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16996587	chr20:15786480-15786481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs549606392	chr20:15786490-15786491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534346269	chr20:15786527-15786528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116612769	chr20:15786562-15786563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79431608	chr20:15786592-15786593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565937327	chr20:15786594-15786595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539655749	chr20:15786618-15786619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34892318	chr20:15786630-15786631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114256595	chr20:15786636-15786637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182198673	chr20:15786647-15786648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148219616	chr20:15786654-15786655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555564220	chr20:15786704-15786705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544754726	chr20:15786752-15786753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73900268	chr20:15786764-15786765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs8118724	chr20:15786766-15786767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187289098	chr20:15786782-15786783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538649907	chr20:15786832-15786833	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15785400-15786000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr20:15785400-15786400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr20:15785600-15786000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:15785600-15787200	Enhancers	Brain Hippocampus Middle	brain
5	chr20:15786400-15790400	Enhancers	Primary B cells from peripheral blood	blood
6	chr20:15786600-15787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:15786800-15787200	Enhancers	Brain Anterior Caudate	brain
8	chr20:15786800-15787200	Enhancers	Brain Substantia Nigra	brain
9	chr20:15787200-15789200	Enhancers	Primary B cells from cord blood	blood
10	chr20:15789000-15790000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:15789800-15790200	Enhancers	Fetal Brain Male	brain
12	chr20:15790000-15790200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:15790200-15799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:15790400-15792200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr20:15792400-15792600	Enhancers	Primary B cells from peripheral blood	blood
16	chr20:15792400-15793000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr20:15792400-15793200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:15792800-15793400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:15793000-15793400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:15793000-15794000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:15793000-15794200	Enhancers	NHEK	skin
22	chr20:15793000-15794800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:15793400-15793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:15793800-15794000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:15793800-15794000	Enhancers	HMEC	breast
26	chr20:15794000-15794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:15794000-15794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:15794000-15795200	Weak transcription	HMEC	breast
29	chr20:15794000-15795400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:15794200-15795400	Weak transcription	NHEK	skin
31	chr20:15794200-15796000	Enhancers	Liver	Liver
32	chr20:15794400-15795400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:15794800-15796000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr20:15794800-15796200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:15795200-15796200	Enhancers	HMEC	breast
36	chr20:15795400-15795800	Enhancers	NHDF-Ad	bronchial
37	chr20:15795400-15796000	Enhancers	HSMMtube	muscle
38	chr20:15795400-15796000	Enhancers	NHEK	skin
39	chr20:15795400-15796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:15795400-15796200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr20:15795400-15796200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:15795400-15796200	Enhancers	HSMM	muscle
43	chr20:15795400-15796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:15795400-15796400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr20:15795600-15796200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr20:15795800-15796200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:15796000-15796800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr20:15796000-15798200	Weak transcription	HSMMtube	muscle
49	chr20:15796000-15799000	Weak transcription	Liver	Liver
50	chr20:15796200-15798000	Weak transcription	HSMM	muscle

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