Variant report

Variant	esv2755557
Chromosome Location	chr20:15250014-15323282
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	ATF2	chr20:15298201-15298708	GM12878	blood:	n/a	n/a
2	ATF2	chr20:15299283-15299738	GM12878	blood:	n/a	n/a
3	ATF2	chr20:15297929-15299020	GM12878	blood:	n/a	n/a
4	ATF2	chr20:15299899-15300572	GM12878	blood:	n/a	n/a
5	ATF2	chr20:15313045-15313880	GM12878	blood:	n/a	chr20:15313332-15313343
6	ATF2	chr20:15299152-15299756	GM12878	blood:	n/a	n/a
7	BATF	chr20:15298174-15298614	GM12878	blood:	n/a	n/a
8	BATF	chr20:15298206-15298537	GM12878	blood:	n/a	n/a
9	BATF	chr20:15299346-15299710	GM12878	blood:	n/a	n/a
10	BATF	chr20:15298652-15298919	GM12878	blood:	n/a	n/a
11	BATF	chr20:15299357-15299730	GM12878	blood:	n/a	n/a
12	BATF	chr20:15313268-15313752	GM12878	blood:	n/a	n/a
13	BCLAF1	chr20:15298185-15298626	GM12878	blood:	n/a	n/a
14	BCLAF1	chr20:15313142-15313783	GM12878	blood:	n/a	n/a
15	BCLAF1	chr20:15298111-15298900	GM12878	blood:	n/a	n/a
16	BHLHE40	chr20:15313573-15313619	GM12878	blood:	n/a	n/a
17	BHLHE40	chr20:15307828-15307979	K562	blood:	n/a	n/a
18	BHLHE40	chr20:15298187-15298590	GM12878	blood:	n/a	n/a
19	BHLHE40	chr20:15313971-15314073	GM12878	blood:	n/a	n/a
20	CEBPB	chr20:15274199-15274343	HepG2	liver:	n/a	n/a
21	CEBPB	chr20:15291116-15291268	H1-hESC	embryonic stem cell:	n/a	chr20:15291183-15291194
22	CEBPB	chr20:15252432-15252620	A549	lung:	n/a	n/a
23	CEBPB	chr20:15303652-15303847	MCF-7	breast:	n/a	chr20:15303752-15303765 chr20:15303752-15303765 chr20:15303752-15303765 chr20:15303754-15303765
24	CEBPB	chr20:15291094-15291349	HepG2	liver:	n/a	chr20:15291183-15291194 chr20:15291271-15291288
25	CEBPB	chr20:15291108-15291403	A549	lung:	n/a	chr20:15291183-15291194 chr20:15291271-15291288
26	CEBPB	chr20:15291007-15291432	Hela-S3	cervix:	n/a	chr20:15291183-15291194 chr20:15291271-15291288
27	CHD1	chr20:15298854-15299036	GM12878	blood:	n/a	n/a
28	CREB1	chr20:15313150-15313651	GM12878	blood:	n/a	n/a
29	CTCF	chr20:15250540-15250690	Caco-2	colon:	n/a	n/a
30	CTCF	chr20:15303760-15303910	HEK293	kidney:	n/a	chr20:15303781-15303799 chr20:15303784-15303797
31	CTCF	chr20:15303749-15303770	GM13977	blood:	n/a	n/a
32	CTCF	chr20:15303716-15303869	GM12878	blood:	n/a	chr20:15303781-15303799 chr20:15303784-15303797
33	CTCF	chr20:15303700-15303850	BE2_C	brain:	n/a	chr20:15303781-15303799 chr20:15303784-15303797
34	CTCF	chr20:15303660-15303810	GM06990	blood:	n/a	chr20:15303781-15303799 chr20:15303784-15303797
35	CTCF	chr20:15275789-15275844	GM13976	blood:	n/a	n/a
36	CTCF	chr20:15308094-15308146	LNCaP	prostate:	n/a	n/a
37	CTCF	chr20:15303751-15303799	Spleen_OC	spleen:	n/a	chr20:15303781-15303799 chr20:15303784-15303797
38	CTCF	chr20:15303620-15303770	BE2_C	brain:	n/a	n/a
39	CTCF	chr20:15303726-15303766	Medullo	brain:	n/a	n/a
40	CUX1	chr20:15298672-15298898	GM12878	blood:	n/a	n/a
41	CUX1	chr20:15308691-15308838	GM12878	blood:	n/a	n/a
42	CUX1	chr20:15265072-15265086	GM12878	blood:	n/a	n/a
43	CUX1	chr20:15313531-15313712	GM12878	blood:	n/a	n/a
44	E2F4	chr20:15277828-15278098	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr20:15273799-15273999	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr20:15291125-15291326	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr20:15319647-15319863	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr20:15313406-15313766	GM12878	blood:	n/a	n/a
49	EBF1	chr20:15298259-15298480	GM12878	blood:	n/a	n/a
50	EP300	chr20:15265071-15265100	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:
2	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:
3	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:
4	chr20:14335576..14337791-chr20:15315333..15317078,2	MCF-7	breast:
5	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:
6	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:
7	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP475	TF binding region

Extended variants
information (count: 2327 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2327 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs420660	chr20:15250014-15250015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541415562	chr20:15250106-15250107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34695296	chr20:15250128-15250129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6110562	chr20:15250132-15250133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185425860	chr20:15250144-15250145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142132673	chr20:15250180-15250181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372668556	chr20:15250195-15250196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75246661	chr20:15253406-15253407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148841336	chr20:15253441-15253442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562972313	chr20:15253477-15253478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575551588	chr20:15253478-15253479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142415769	chr20:15253530-15253531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6105382	chr20:15253551-15253552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554781227	chr20:15253563-15253564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573271125	chr20:15253622-15253623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147937299	chr20:15253682-15253683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371380052	chr20:15253718-15253719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375151296	chr20:15253781-15253782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565472201	chr20:15253789-15253790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182539263	chr20:15257625-15257626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186496362	chr20:15257666-15257667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145737620	chr20:15257683-15257684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373727078	chr20:15257726-15257727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540991601	chr20:15257739-15257740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113383789	chr20:15257740-15257741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114255184	chr20:15257746-15257747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201673901	chr20:15257748-15257749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192505843	chr20:15257788-15257789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573540941	chr20:15257828-15257829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563721101	chr20:15257829-15257830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111936586	chr20:15257854-15257855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6034142	chr20:15257878-15257879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138317044	chr20:15257881-15257882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183142205	chr20:15257982-15257983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187429467	chr20:15258002-15258003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367736293	chr20:15258011-15258012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113779870	chr20:15258087-15258088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192022298	chr20:15258126-15258127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557790683	chr20:15258130-15258131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111315748	chr20:15258132-15258133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542189101	chr20:15258169-15258170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142567170	chr20:15258179-15258180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184990759	chr20:15258224-15258225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6074866	chr20:15258229-15258230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116777100	chr20:15258231-15258232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541056877	chr20:15258238-15258239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76047839	chr20:15258241-15258242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572954023	chr20:15258280-15258281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577757790	chr20:15258314-15258315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545180445	chr20:15258341-15258342	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15250000-15250200	Enhancers	GM12878-XiMat	blood
2	chr20:15253400-15253800	Enhancers	Fetal Stomach	stomach
3	chr20:15257600-15259600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:15257800-15259800	Enhancers	HMEC	breast
5	chr20:15258000-15259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:15258200-15259400	Enhancers	NHEK	skin
7	chr20:15258400-15259600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:15259400-15277600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:15270400-15271800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:15270600-15271800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:15271000-15271800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:15271000-15272000	Enhancers	Brain Germinal Matrix	brain
13	chr20:15271200-15272400	Enhancers	GM12878-XiMat	blood
14	chr20:15271400-15272000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr20:15276400-15276600	Enhancers	Gastric	stomach
16	chr20:15276400-15279600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:15277000-15277600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:15277200-15277600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:15277600-15277800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:15277600-15277800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr20:15277800-15282200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:15277800-15285000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:15281600-15282000	Enhancers	Lung	lung
24	chr20:15282600-15283000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr20:15284800-15285200	Enhancers	NHEK	skin
26	chr20:15285000-15285400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:15285000-15285800	Enhancers	HMEC	breast
28	chr20:15285800-15291000	Weak transcription	HMEC	breast
29	chr20:15289400-15290800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr20:15290600-15291600	Enhancers	HUVEC	blood vessel
31	chr20:15290600-15292600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr20:15290800-15291000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr20:15291000-15291400	Enhancers	HMEC	breast
34	chr20:15291000-15291600	Enhancers	Primary B cells from peripheral blood	blood
35	chr20:15291000-15291800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr20:15291200-15291600	Enhancers	Hela-S3	cervix
37	chr20:15291600-15297000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr20:15291800-15292400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr20:15293800-15294200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr20:15294800-15295200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr20:15295400-15297200	Enhancers	GM12878-XiMat	blood
42	chr20:15296000-15296200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr20:15296200-15297200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr20:15296200-15298400	Weak transcription	Primary B cells from cord blood	blood
45	chr20:15296600-15296800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr20:15296800-15297400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr20:15297000-15297400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr20:15297200-15298000	Flanking Active TSS	GM12878-XiMat	blood
49	chr20:15297200-15301000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr20:15297400-15298200	Weak transcription	Primary B cells from peripheral blood	blood

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