Variant report

Variant	nsv817879
Chromosome Location	chr20:892948-897614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:896245-896512	HepG2	liver:	n/a	chr20:896378-896389 chr20:896380-896391 chr20:896378-896391
2	CTCF	chr20:896460-896610	HEK293	kidney:	n/a	n/a
3	CTCF	chr20:892470-893007	HCT-116	colon:	n/a	chr20:892887-892895 chr20:892695-892708 chr20:892693-892711 chr20:892688-892709 chr20:892633-892641
4	CTCF	chr20:892296-892968	HCT-116	colon:	n/a	chr20:892887-892895 chr20:892695-892708 chr20:892693-892711 chr20:892688-892709 chr20:892633-892641
5	CTCF	chr20:896822-896914	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr20:897511-897796	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr20:893448-893484	GM12878	blood:	n/a	n/a
8	POLR2A	chr20:893503-893510	GM12878	blood:	n/a	n/a
9	RAD21	chr20:892376-892961	H1-hESC	embryonic stem cell:	n/a	chr20:892589-892603 chr20:892691-892710 chr20:892593-892606 chr20:892588-892602 chr20:892694-892707
10	RAD21	chr20:892341-893012	HCT-116	colon:	n/a	chr20:892589-892603 chr20:892691-892710 chr20:892593-892606 chr20:892588-892602 chr20:892694-892707
11	RAD21	chr20:892468-892971	HCT-116	colon:	n/a	chr20:892589-892603 chr20:892691-892710 chr20:892593-892606 chr20:892588-892602 chr20:892694-892707
12	USF1	chr20:896861-897007	HepG2	liver:	n/a	n/a
13	USF1	chr20:892834-893164	H1-hESC	embryonic stem cell:	n/a	chr20:893094-893110
14	USF1	chr20:892806-893177	H1-hESC	embryonic stem cell:	n/a	chr20:893094-893110
15	USF2	chr20:893075-893125	H1-hESC	embryonic stem cell:	n/a	chr20:893094-893110
16	ZNF143	chr20:892564-893121	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:896349-896399	U87	brain:	n/a
2	chr20:897545-897595	AG04450	lung:	fetal
3	chr20:897024-897074	SK-N-SH_RA	brain:	n/a
4	chr20:896349-896399	Hela-S3	cervix:	n/a
5	chr20:896349-896399	U87	brain:	n/a
6	chr20:897545-897595	AG04450	lung:	fetal
7	chr20:897024-897074	SK-N-SH_RA	brain:	n/a
8	chr20:896349-896399	Hela-S3	cervix:	n/a
9	chr20:897024-897074	K562	blood:	n/a
10	chr20:896876-896926	HCT-116	colon:	n/a
11	chr20:896876-896926	ProgFib	skin:	n/a
12	chr20:896349-896399	K562	blood:	n/a
13	chr20:896564-896614	GM12878	blood:	n/a
14	chr20:896349-896399	NHDF-neo	bronchial:	n/a
15	chr20:897545-897595	NB4	blood:	n/a
16	chr20:897545-897595	SAEC	small airway:	n/a
17	chr20:897545-897595	ovcar-3	ovarian:	n/a
18	chr20:897024-897074	IMR90	lung:	fetal
19	chr20:896349-896399	CMK	blood:	n/a
20	chr20:897545-897595	LNCaP	prostate:	n/a
21	chr20:897024-897074	HCPEpiC	choroid plexus:	n/a
22	chr20:896876-896926	NT2-D1	testis:	n/a
23	chr20:897024-897074	GM12892	blood:	n/a
24	chr20:896564-896614	HRPEpiC	eye:	n/a
25	chr20:897545-897595	HCF	heart:	n/a
26	chr20:896349-896399	HCM	heart:	n/a
27	chr20:896349-896399	HUVEC	blood vessel:	n/a
28	chr20:896349-896399	HIPEpiC	eye:	n/a
29	chr20:896564-896614	K562	blood:	n/a
30	chr20:897050-897100	A549	lung:	n/a
31	chr20:896876-896926	SAEC	small airway:	n/a
32	chr20:896564-896614	NHBE	bronchial:	n/a
33	chr20:897024-897074	Hepatocyte	liver:	n/a
34	chr20:896981-897031	GM19239	blood:	n/a
35	chr20:897050-897100	HMEC	breast:	n/a
36	chr20:897600-897650	HIPEpiC	eye:	n/a
37	chr20:897545-897595	HNPCEpiC	eye:	n/a
38	chr20:897545-897595	PrEC	prostate:	n/a
39	chr20:897024-897074	GM12878	blood:	n/a
40	chr20:897600-897650	HepG2	liver:	n/a
41	chr20:897050-897100	Hela-S3	cervix:	n/a
42	chr20:897050-897100	GM06990	blood:	n/a
43	chr20:896876-896926	GM19239	blood:	n/a
44	chr20:896981-897031	K562	blood:	n/a
45	chr20:896981-897031	AG04449	skin:	fetal
46	chr20:896981-897031	GM12891	blood:	n/a
47	chr20:896349-896399	SK-N-MC	brain:	n/a
48	chr20:897600-897650	AG09319	gingival:	n/a
49	chr20:896876-896926	MCF-7	breast:	n/a
50	chr20:896564-896614	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:897191..899627-chr20:903602..905719,2	MCF-7	breast:
2	chr20:825224..827249-chr20:896016..898725,2	MCF-7	breast:

Variant related genes	Relation type
ANGPT4	TF binding region
ANGPT4	CpG island
ENSG00000125898	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574628	chr20:892948-892949	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs367813863	chr20:892978-892979	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs548183839	chr20:893049-893050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs370300811	chr20:893054-893055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs6077355	chr20:893079-893080	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs555840045	chr20:893104-893105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567847391	chr20:893106-893107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs536978501	chr20:893143-893144	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs182114152	chr20:893153-893154	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566762384	chr20:893154-893155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538854724	chr20:893159-893160	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs112117046	chr20:893184-893185	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs140925378	chr20:893185-893186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs537838634	chr20:893197-893198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs554978787	chr20:893226-893227	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs371448342	chr20:893257-893258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs540561447	chr20:893262-893263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs554119512	chr20:893286-893287	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs574144700	chr20:893293-893294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs186700781	chr20:893310-893311	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs150385503	chr20:893315-893316	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562534692	chr20:893328-893329	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs117235581	chr20:893411-893412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs541436166	chr20:893427-893428	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs111431277	chr20:893428-893429	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs372320179	chr20:893433-893434	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs571968892	chr20:893457-893458	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs561767353	chr20:893460-893461	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs190907499	chr20:893550-893551	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs546847643	chr20:893553-893554	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs183955613	chr20:893589-893590	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs188951075	chr20:893627-893628	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113886452	chr20:893649-893650	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193090621	chr20:893670-893671	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552390482	chr20:893671-893672	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568990485	chr20:893678-893679	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538382982	chr20:893688-893689	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368451072	chr20:893696-893697	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376928983	chr20:893706-893707	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568402321	chr20:893729-893730	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573315279	chr20:893826-893827	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533945376	chr20:893900-893901	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564226622	chr20:893972-893973	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8117301	chr20:893981-893982	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576292239	chr20:894006-894007	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138096039	chr20:894030-894031	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142639493	chr20:894031-894032	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550040700	chr20:894074-894075	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144781644	chr20:894095-894096	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563754192	chr20:894108-894109	Weak transcription Bivalent Enhancer Enhancers	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
small cell lung cancer	20016488	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
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:888000-894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:888000-896400	Weak transcription	Right Atrium	heart
3	chr20:890200-893200	Enhancers	Adipose Nuclei	Adipose
4	chr20:890200-894200	Enhancers	Ovary	ovary
5	chr20:890400-893000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr20:891000-894200	Bivalent Enhancer	Placenta	Placenta
7	chr20:892000-893000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:892200-893000	Enhancers	Osteobl	bone
9	chr20:892200-893600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:892200-896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:892400-893000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr20:892400-893200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr20:892600-893000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:892600-893400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr20:892600-893600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:892600-895200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:892800-894800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:893000-893200	Enhancers	Brain Substantia Nigra	brain
19	chr20:893000-894600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:893000-895400	Weak transcription	Osteobl	bone
21	chr20:893000-895800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr20:893200-896200	Weak transcription	Adipose Nuclei	Adipose
23	chr20:893600-893800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr20:893600-895800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:893600-896600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:894200-894600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr20:894200-895200	Weak transcription	Ovary	ovary
28	chr20:894600-895400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:894600-896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:894600-897400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr20:894600-897400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:894800-895400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr20:894800-897000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:894800-897600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr20:895000-895200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr20:895000-895800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:895000-896000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr20:895200-895400	Bivalent Enhancer	HMEC	breast
39	chr20:895200-895800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr20:895200-896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr20:895200-896200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr20:895200-898000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:895200-898200	Enhancers	Ovary	ovary
44	chr20:895400-895600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:895400-895600	Bivalent Enhancer	HSMMtube	muscle
46	chr20:895400-895600	Enhancers	Osteobl	bone
47	chr20:895400-896000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr20:895600-896400	Weak transcription	Osteobl	bone
49	chr20:895600-897400	Enhancers	Brain Substantia Nigra	brain
50	chr20:895800-897800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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