Variant report

Variant	nsv458936
Chromosome Location	chr20:16567202-16585314
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	chr20:16583606-16583847	A549	lung:	n/a	chr20:16583778-16583789
3	CEBPB	chr20:16583651-16583886	HepG2	liver:	n/a	chr20:16583778-16583789
4	CEBPB	chr20:16585126-16585310	K562	blood:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
5	CEBPB	chr20:16585034-16585336	IMR90	lung:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
6	CEBPB	chr20:16585006-16585344	HepG2	liver:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
7	CEBPB	chr20:16585011-16585341	A549	lung:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
8	CEBPB	chr20:16576176-16576347	HepG2	liver:	n/a	chr20:16576264-16576275
9	CEBPB	chr20:16585117-16585328	Hela-S3	cervix:	n/a	chr20:16585163-16585176 chr20:16585164-16585175
10	CHD2	chr20:16569025-16569178	HepG2	liver:	n/a	n/a
11	CTCF	chr20:16570420-16570570	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
12	CTCF	chr20:16570227-16570660	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
13	CTCF	chr20:16570360-16570582	A549	lung:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
14	CTCF	chr20:16570366-16570572	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
15	CTCF	chr20:16568460-16568610	MCF-7	breast:	n/a	n/a
16	CTCF	chr20:16570380-16570530	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
17	CTCF	chr20:16570363-16570588	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
18	CTCF	chr20:16568780-16568930	GM12865	blood:	n/a	n/a
19	CTCF	chr20:16570416-16570519	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
20	CTCF	chr20:16570358-16570569	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
21	CTCF	chr20:16570411-16570534	LNCaP	prostate:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
22	CTCF	chr20:16570355-16570586	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
23	CTCF	chr20:16576817-16576849	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr20:16570348-16570562	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
25	CTCF	chr20:16570235-16570645	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
26	CTCF	chr20:16570353-16570589	MCF-7	breast:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
27	CTCF	chr20:16570520-16570670	A549	lung:	n/a	n/a
28	CTCF	chr20:16568440-16568590	HepG2	liver:	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	chr20:16571200-16571350	HepG2	liver:	n/a	n/a
32	CTCF	chr20:16570340-16570490	A549	lung:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
33	CTCF	chr20:16570360-16570510	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
34	CTCF	chr20:16570415-16570532	H1-hESC	embryonic stem cell:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
35	CTCF	chr20:16570383-16570554	A549	lung:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
36	CTCF	chr20:16570320-16570470	A549	lung:	n/a	n/a
37	CTCF	chr20:16568153-16568265	MCF-7	breast:	n/a	n/a
38	CTCF	chr20:16570400-16570550	HepG2	liver:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
39	CTCF	chr20:16570380-16570530	HEK293	kidney:	n/a	chr20:16570465-16570481 chr20:16570464-16570482 chr20:16570467-16570480 chr20:16570467-16570475
40	E2F4	chr20:16581786-16581793	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr20:16583572-16584010	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr20:16577135-16577412	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr20:16580068-16580239	MCF10A-Er-Src	breast:	n/a	n/a
44	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
45	FOS	chr20:16577082-16577412	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr20:16577174-16577412	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr20:16580006-16580276	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr20:16584749-16585124	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	chr20:16584777-16585124	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
50	FOS	chr20:16577070-16577412	MCF10A-Er-Src	breast:	n/a	n/a

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

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

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

Extended variants
information (count: 558 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3746786	chr20:16567202-16567203	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3746787	chr20:16567223-16567224	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs73901165	chr20:16567231-16567232	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540645820	chr20:16567233-16567234	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs113539202	chr20:16567252-16567253	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs532873550	chr20:16567268-16567269	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs80001146	chr20:16567298-16567299	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189880544	chr20:16567307-16567308	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs531053021	chr20:16567308-16567309	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549542065	chr20:16567314-16567315	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192785427	chr20:16567343-16567344	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6111196	chr20:16567424-16567425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6111197	chr20:16567502-16567503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116457604	chr20:16567562-16567563	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78656516	chr20:16567605-16567606	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369136607	chr20:16567658-16567659	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185273601	chr20:16567676-16567677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367577265	chr20:16567697-16567698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569318894	chr20:16567752-16567753	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373134670	chr20:16567844-16567845	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114188738	chr20:16567855-16567856	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531147461	chr20:16567862-16567863	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190102592	chr20:16567863-16567864	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376649319	chr20:16567875-16567876	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540887495	chr20:16567883-16567884	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552554272	chr20:16567934-16567935	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577614234	chr20:16567943-16567944	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543752562	chr20:16567951-16567952	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115466810	chr20:16567965-16567966	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371332650	chr20:16567995-16567996	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs6044149	chr20:16568062-16568063	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs528898118	chr20:16568095-16568096	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542877415	chr20:16568119-16568120	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6044150	chr20:16568129-16568130	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138417543	chr20:16568132-16568133	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149193831	chr20:16568161-16568162	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143323186	chr20:16568174-16568175	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148382712	chr20:16568223-16568224	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559085514	chr20:16568237-16568238	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs143294400	chr20:16568271-16568272	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569273471	chr20:16568290-16568291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186492980	chr20:16568317-16568318	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555151216	chr20:16568337-16568338	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147466417	chr20:16568349-16568350	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534506719	chr20:16568364-16568365	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138286048	chr20:16568379-16568380	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143941044	chr20:16568395-16568396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544709286	chr20:16568410-16568411	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556891247	chr20:16568457-16568458	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs74875132	chr20:16568458-16568459	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16562000-16568400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr20:16565000-16567400	Weak transcription	Right Atrium	heart
3	chr20:16565800-16567400	Weak transcription	Fetal Brain Male	brain
4	chr20:16566600-16568400	Weak transcription	Colonic Mucosa	Colon
5	chr20:16566600-16569200	Enhancers	Fetal Intestine Large	intestine
6	chr20:16566600-16569400	Enhancers	Fetal Intestine Small	intestine
7	chr20:16567000-16567400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:16567200-16567400	Enhancers	Duodenum Mucosa	Duodenum
9	chr20:16567200-16567400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr20:16567200-16567400	Enhancers	Thymus	Thymus
11	chr20:16567200-16568600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:16567200-16569000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr20:16567400-16568000	Weak transcription	Thymus	Thymus
14	chr20:16567400-16568200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr20:16567400-16568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr20:16567400-16568400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr20:16567600-16568600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr20:16567600-16569400	Enhancers	HepG2	liver
19	chr20:16567800-16568200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:16567800-16568600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr20:16568000-16569200	Enhancers	Thymus	Thymus
22	chr20:16568200-16568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr20:16568200-16569200	Enhancers	Duodenum Mucosa	Duodenum
24	chr20:16568400-16568600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr20:16568400-16569000	Enhancers	Colonic Mucosa	Colon
26	chr20:16568600-16568800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr20:16568600-16569000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr20:16569000-16569200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr20:16570400-16571000	Enhancers	Fetal Lung	lung
30	chr20:16570800-16571200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr20:16571000-16571200	Enhancers	Thymus	Thymus
32	chr20:16571000-16571400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:16575800-16576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:16576000-16577000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:16576800-16578800	Enhancers	Fetal Brain Male	brain
36	chr20:16577000-16577200	Enhancers	Hela-S3	cervix
37	chr20:16577000-16577400	Bivalent Enhancer	A549	lung
38	chr20:16577000-16578800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:16578800-16580600	Weak transcription	Fetal Brain Male	brain
40	chr20:16580400-16582800	Enhancers	Fetal Lung	lung
41	chr20:16580600-16584200	Enhancers	Fetal Brain Male	brain
42	chr20:16581600-16582200	Enhancers	Stomach Smooth Muscle	stomach
43	chr20:16581800-16582200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:16581800-16582200	Enhancers	Adipose Nuclei	Adipose
45	chr20:16581800-16582200	Enhancers	Ovary	ovary
46	chr20:16581800-16582400	Enhancers	Fetal Stomach	stomach
47	chr20:16581800-16582600	Enhancers	Fetal Brain Female	brain
48	chr20:16581800-16582600	Enhancers	Fetal Muscle Leg	muscle
49	chr20:16582000-16582600	Enhancers	Brain Angular Gyrus	brain
50	chr20:16582200-16587400	Weak transcription	Adipose Nuclei	Adipose

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