Variant report

Variant	nsv962632
Chromosome Location	chr20:13312236-13320455
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	chr20:13293842..13296817-chr20:13312526..13314549,2	K562	blood:
2	chr20:13316813..13318984-chr20:13324868..13327677,2	MCF-7	breast:

Extended variants
information (count: 329 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190102931	chr20:13312248-13312249	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560139023	chr20:13312257-13312258	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558918352	chr20:13312266-13312267	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542955897	chr20:13312307-13312308	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202066800	chr20:13312308-13312309	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368034651	chr20:13312315-13312316	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76110438	chr20:13312320-13312321	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35846714	chr20:13312321-13312322	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562742656	chr20:13312334-13312335	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369890582	chr20:13312335-13312336	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201205757	chr20:13312336-13312337	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531611828	chr20:13312343-13312344	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551428952	chr20:13312368-13312369	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571211571	chr20:13312397-13312398	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73610466	chr20:13312408-13312409	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565824956	chr20:13312412-13312413	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558281158	chr20:13312413-13312414	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181000921	chr20:13312428-13312429	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114154794	chr20:13312446-13312447	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146529983	chr20:13312489-13312490	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536013805	chr20:13312499-13312500	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185894576	chr20:13312532-13312533	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534034554	chr20:13312560-13312561	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78720336	chr20:13312590-13312591	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547915122	chr20:13312593-13312594	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192418589	chr20:13312602-13312603	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557771962	chr20:13312609-13312610	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570845845	chr20:13312610-13312611	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577970448	chr20:13312615-13312616	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540376791	chr20:13312620-13312621	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554202739	chr20:13312628-13312629	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573772852	chr20:13312639-13312640	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552018256	chr20:13312640-13312641	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542869963	chr20:13312743-13312744	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562655000	chr20:13312763-13312764	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531675775	chr20:13312825-13312826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4813123	chr20:13312856-13312857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531137786	chr20:13312888-13312889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564730347	chr20:13312894-13312895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139811503	chr20:13312897-13312898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149674057	chr20:13312912-13312913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561010569	chr20:13312922-13312923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529720574	chr20:13312954-13312955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35774670	chr20:13312985-13312986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397865672	chr20:13312987-13312988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549201602	chr20:13312997-13312998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118190059	chr20:13313055-13313056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538195943	chr20:13313064-13313065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183744625	chr20:13313114-13313115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571564551	chr20:13313172-13313173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13304000-13323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:13306400-13323400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr20:13309600-13313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:13310200-13350000	Weak transcription	Pancreas	Pancrea
5	chr20:13310800-13317000	Enhancers	HepG2	liver
6	chr20:13311600-13313000	Enhancers	HUVEC	blood vessel
7	chr20:13311600-13313000	Enhancers	NH-A	brain
8	chr20:13311800-13312400	Enhancers	Osteobl	bone
9	chr20:13311800-13313000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:13311800-13313000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:13311800-13313000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr20:13311800-13313000	Enhancers	NHEK	skin
13	chr20:13311800-13313600	Enhancers	A549	lung
14	chr20:13311800-13314800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr20:13312000-13312600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:13312000-13312800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:13312000-13312800	Enhancers	HSMM	muscle
18	chr20:13312000-13313000	Weak transcription	Fetal Kidney	kidney
19	chr20:13312000-13313000	Enhancers	HMEC	breast
20	chr20:13312200-13312600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr20:13312200-13312600	Enhancers	NHDF-Ad	bronchial
22	chr20:13312200-13312800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:13312200-13312800	Enhancers	Dnd41	blood
24	chr20:13312200-13313000	Enhancers	HSMMtube	muscle
25	chr20:13312400-13312600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:13312400-13312800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:13312400-13312800	Flanking Active TSS	Osteobl	bone
28	chr20:13312400-13315200	Enhancers	Fetal Lung	lung
29	chr20:13312600-13312800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr20:13312600-13312800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:13312600-13314600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr20:13312600-13315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:13312600-13322000	Weak transcription	NHDF-Ad	bronchial
34	chr20:13312800-13313000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr20:13312800-13313000	Enhancers	Osteobl	bone
36	chr20:13312800-13315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:13312800-13316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:13312800-13316800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:13312800-13321600	Weak transcription	Dnd41	blood
40	chr20:13313000-13313800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:13313000-13314200	Enhancers	Fetal Kidney	kidney
42	chr20:13313000-13314200	Weak transcription	NHEK	skin
43	chr20:13313000-13314400	Weak transcription	Osteobl	bone
44	chr20:13313000-13315400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr20:13313000-13315400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:13313000-13316400	Weak transcription	HMEC	breast
47	chr20:13313400-13314000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr20:13313400-13314000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:13313600-13314000	Flanking Active TSS	A549	lung
50	chr20:13313600-13314600	Enhancers	Duodenum Smooth Muscle	Duodenum

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