Variant report

Variant	nsv1061216
Chromosome Location	chr20:16564668-16586544
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	BRCA1	chr20:16577299-16577304	HepG2	liver:	n/a	n/a
2	CEBPB	chr20:16564805-16565026	HepG2	liver:	n/a	chr20:16564925-16564936 chr20:16564924-16564937 chr20:16564924-16564937 chr20:16564924-16564935
3	CEBPB	chr20:16585034-16585336	IMR90	lung:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
4	CEBPB	chr20:16585117-16585328	Hela-S3	cervix:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
5	CEBPB	chr20:16585011-16585341	A549	lung:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
6	CEBPB	chr20:16583606-16583847	A549	lung:	n/a	chr20:16583778-16583789
7	CEBPB	chr20:16583651-16583886	HepG2	liver:	n/a	chr20:16583778-16583789
8	CEBPB	chr20:16576176-16576347	HepG2	liver:	n/a	chr20:16576264-16576275
9	CEBPB	chr20:16585006-16585344	HepG2	liver:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
10	CEBPB	chr20:16585126-16585310	K562	blood:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
11	CHD2	chr20:16569025-16569178	HepG2	liver:	n/a	n/a
12	CTCF	chr20:16570383-16570554	A549	lung:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
13	CTCF	chr20:16570415-16570532	H1-hESC	embryonic stem cell:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
14	CTCF	chr20:16570235-16570645	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
15	CTCF	chr20:16570380-16570530	HEK293	kidney:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
16	CTCF	chr20:16570520-16570670	A549	lung:	n/a	n/a
17	CTCF	chr20:16570227-16570660	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
18	CTCF	chr20:16570416-16570519	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
19	CTCF	chr20:16571200-16571350	HepG2	liver:	n/a	n/a
20	CTCF	chr20:16570366-16570572	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
21	CTCF	chr20:16570355-16570586	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
22	CTCF	chr20:16570360-16570510	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
23	CTCF	chr20:16570358-16570569	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
24	CTCF	chr20:16568153-16568265	MCF-7	breast:	n/a	n/a
25	CTCF	chr20:16570340-16570490	A549	lung:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
26	CTCF	chr20:16570411-16570534	LNCaP	prostate:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
27	CTCF	chr20:16568440-16568590	HepG2	liver:	n/a	n/a
28	CTCF	chr20:16568780-16568930	GM12865	blood:	n/a	n/a
29	CTCF	chr20:16570344-16570630	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
30	CTCF	chr20:16570375-16570553	LNCaP	prostate:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
31	CTCF	chr20:16570348-16570562	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
32	CTCF	chr20:16570420-16570570	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
33	CTCF	chr20:16568460-16568610	MCF-7	breast:	n/a	n/a
34	CTCF	chr20:16570400-16570550	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
35	CTCF	chr20:16570353-16570589	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
36	CTCF	chr20:16570380-16570530	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
37	CTCF	chr20:16576817-16576849	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr20:16570363-16570588	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
39	CTCF	chr20:16570360-16570582	A549	lung:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
40	CTCF	chr20:16570320-16570470	A549	lung:	n/a	n/a
41	E2F4	chr20:16583572-16584010	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr20:16581786-16581793	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr20:16577070-16577412	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr20:16577174-16577412	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr20:16564860-16565000	MCF10A-Er-Src	breast:	n/a	chr20:16564907-16564918
46	FOS	chr20:16577082-16577412	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr20:16580068-16580239	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr20:16584803-16585121	MCF10A-Er-Src	breast:	n/a	chr20:16584960-16584971 chr20:16584964-16584972 chr20:16584965-16584972 chr20:16584807-16584817 chr20:16584963-16584973 chr20:16584962-16584974 chr20:16584964-16584973
49	FOS	chr20:16580006-16580276	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr20:16577135-16577412	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:16567323..16569576-chr20:16708073..16710976,2	MCF-7	breast:
2	chr20:16577829..16580516-chr20:16584380..16586339,2	MCF-7	breast:
3	chr20:16577829..16580516-chr20:16584380..16586339,2	MCF-7	breast:
4	chr20:16570035..16570816-chr20:16741683..16742301,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF16B-6	chr20:16585193-16585738	NONHSAT078737
2	lnc-KIF16B-6	chr20:16570680-16570827	NONHSAT078737
3	lnc-KIF16B-5	chr20:16566978-16567338	NONHSAT078736
4	lnc-KIF16B-6	chr20:16568429-16568467	NONHSAT078737

Variant related genes	Relation type
RPLP0P1	TF binding region
ENSG00000125870	chromatin interactions

Extended variants
information (count: 685 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145434108	chr20:16564703-16564704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188552294	chr20:16564714-16564715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528857446	chr20:16564743-16564744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192400153	chr20:16564784-16564785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144083429	chr20:16564818-16564819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116512470	chr20:16564821-16564822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566954164	chr20:16565024-16565025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6111195	chr20:16565025-16565026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs553953805	chr20:16565104-16565105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565888859	chr20:16565130-16565131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539639530	chr20:16565131-16565132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534412361	chr20:16565166-16565167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553055981	chr20:16565174-16565175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576643718	chr20:16565211-16565212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578017219	chr20:16565218-16565219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148664293	chr20:16565221-16565222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555449707	chr20:16565243-16565244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116364916	chr20:16565256-16565257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6080307	chr20:16565260-16565261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6080308	chr20:16565272-16565273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541499863	chr20:16565278-16565279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570937771	chr20:16565306-16565307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375932267	chr20:16565316-16565317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142142862	chr20:16565333-16565334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527530630	chr20:16565342-16565343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546011698	chr20:16565489-16565490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564440383	chr20:16565490-16565491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531486777	chr20:16565491-16565492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549764309	chr20:16565502-16565503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561485067	chr20:16565510-16565511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528958555	chr20:16565511-16565512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75389307	chr20:16565592-16565593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117026474	chr20:16565607-16565608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535821884	chr20:16565618-16565619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375567952	chr20:16565647-16565648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551658436	chr20:16565706-16565707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570348313	chr20:16565715-16565716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140378579	chr20:16565747-16565748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60522171	chr20:16565779-16565780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58970281	chr20:16565780-16565781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377017070	chr20:16565867-16565868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555743317	chr20:16565876-16565877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573908027	chr20:16565911-16565912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576287507	chr20:16565928-16565929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553544939	chr20:16565967-16565968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6044147	chr20:16565993-16565994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6044148	chr20:16566092-16566093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs183398161	chr20:16566114-16566115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117643406	chr20:16566138-16566139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146417533	chr20:16566155-16566156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16559800-16567000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:16561600-16567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr20:16562000-16566600	Weak transcription	Fetal Intestine Large	intestine
4	chr20:16562000-16566600	Weak transcription	Fetal Intestine Small	intestine
5	chr20:16562000-16567200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:16562000-16568400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:16562200-16567200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr20:16564600-16565600	Weak transcription	Fetal Brain Male	brain
9	chr20:16565000-16567400	Weak transcription	Right Atrium	heart
10	chr20:16565600-16565800	Enhancers	Fetal Brain Male	brain
11	chr20:16565800-16567400	Weak transcription	Fetal Brain Male	brain
12	chr20:16566600-16568400	Weak transcription	Colonic Mucosa	Colon
13	chr20:16566600-16569200	Enhancers	Fetal Intestine Large	intestine
14	chr20:16566600-16569400	Enhancers	Fetal Intestine Small	intestine
15	chr20:16567000-16567400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:16567200-16567400	Enhancers	Duodenum Mucosa	Duodenum
17	chr20:16567200-16567400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr20:16567200-16567400	Enhancers	Thymus	Thymus
19	chr20:16567200-16568600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:16567200-16569000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr20:16567400-16568000	Weak transcription	Thymus	Thymus
22	chr20:16567400-16568200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr20:16567400-16568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr20:16567400-16568400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:16567600-16568600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:16567600-16569400	Enhancers	HepG2	liver
27	chr20:16567800-16568200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr20:16567800-16568600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr20:16568000-16569200	Enhancers	Thymus	Thymus
30	chr20:16568200-16568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr20:16568200-16569200	Enhancers	Duodenum Mucosa	Duodenum
32	chr20:16568400-16568600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr20:16568400-16569000	Enhancers	Colonic Mucosa	Colon
34	chr20:16568600-16568800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr20:16568600-16569000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
36	chr20:16569000-16569200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr20:16570400-16571000	Enhancers	Fetal Lung	lung
38	chr20:16570800-16571200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr20:16571000-16571200	Enhancers	Thymus	Thymus
40	chr20:16571000-16571400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:16575800-16576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:16576000-16577000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:16576800-16578800	Enhancers	Fetal Brain Male	brain
44	chr20:16577000-16577200	Enhancers	Hela-S3	cervix
45	chr20:16577000-16577400	Bivalent Enhancer	A549	lung
46	chr20:16577000-16578800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:16578800-16580600	Weak transcription	Fetal Brain Male	brain
48	chr20:16580400-16582800	Enhancers	Fetal Lung	lung
49	chr20:16580600-16584200	Enhancers	Fetal Brain Male	brain
50	chr20:16581600-16582200	Enhancers	Stomach Smooth Muscle	stomach

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