Variant report

Variant	nsv585561
Chromosome Location	chr20:14992542-15122743
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	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
3	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
4	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
5	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
6	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
7	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
8	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
9	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
10	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
12	CEBPB	chr20:15013078-15013237	H1-hESC	embryonic stem cell:	n/a	chr20:15013102-15013113
13	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a
15	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
16	CEBPB	chr20:15026013-15026308	HepG2	liver:	n/a	n/a
17	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
18	CEBPB	chr20:15027700-15027838	A549	lung:	n/a	n/a
19	CEBPB	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
20	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
21	CEBPB	chr20:15041135-15041621	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
22	CEBPB	chr20:15041282-15041553	A549	lung:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
23	CEBPB	chr20:15041173-15041651	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
24	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr20:15120303-15120457	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a
27	CEBPB	chr20:15012975-15013232	HepG2	liver:	n/a	chr20:15013102-15013113
28	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
30	CEBPB	chr20:15042545-15043095	MCF-7	breast:	n/a	chr20:15042893-15042904
31	CEBPB	chr20:15027696-15027949	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
33	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
34	CEBPB	chr20:15040911-15041602	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
35	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
36	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
37	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
38	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
39	CEBPD	chr20:15041207-15041548	HepG2	liver:	n/a	n/a
40	CHD2	chr20:15041252-15041588	HepG2	liver:	n/a	n/a
41	CHD2	chr20:15042505-15042885	HepG2	liver:	n/a	n/a
42	CHD2	chr20:15058609-15058743	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr20:15003980-15004130	GM12864	blood:	n/a	n/a
44	CTCF	chr20:15007623-15007660	GM20000	blood:	n/a	n/a
45	CTCF	chr20:15079491-15079551	MCF-7	breast:	n/a	n/a
46	CTCF	chr20:15103460-15103610	NB4	blood:	n/a	n/a
47	CTCF	chr20:14996820-14996970	HMEC	breast:	n/a	n/a
48	CTCF	chr20:15042640-15042790	RPTEC	kidney:	n/a	n/a
49	CTCF	chr20:15042540-15042690	MCF-7	breast:	n/a	n/a
50	CTCF	chr20:15042480-15042630	HRPEpiC	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
2	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:

Variant related genes	Relation type
RNU6-1159P	TF binding region
RNU6-115P	TF binding region

Extended variants
information (count: 3426 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3426 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4140562	chr20:14992542-14992543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568864576	chr20:14992572-14992573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370535095	chr20:14992597-14992598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34590601	chr20:14992651-14992652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536354806	chr20:14992655-14992656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112167151	chr20:14992747-14992748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572997089	chr20:14992815-14992816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534154894	chr20:14992833-14992834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559088320	chr20:14992840-14992841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145798061	chr20:14992879-14992880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544860230	chr20:14992886-14992887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117873368	chr20:14992942-14992943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375604287	chr20:14992987-14992988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574635010	chr20:14992998-14992999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575272538	chr20:14993093-14993094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542638797	chr20:14993106-14993107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561015890	chr20:14993107-14993108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372291477	chr20:14993147-14993148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553382174	chr20:14993163-14993164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117340810	chr20:14993175-14993176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189387558	chr20:14993179-14993180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565058436	chr20:14993182-14993183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532327239	chr20:14993197-14993198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147771492	chr20:14993329-14993330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374339294	chr20:14993373-14993374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568800769	chr20:14993386-14993387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367924228	chr20:14993391-14993392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536293483	chr20:14993426-14993427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548154616	chr20:14993467-14993468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538759089	chr20:14993471-14993472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557908533	chr20:14993545-14993546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566656919	chr20:14993588-14993589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534263053	chr20:14993601-14993602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558905312	chr20:14993635-14993636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141273477	chr20:14993669-14993670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538167015	chr20:14993710-14993711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150313442	chr20:14993734-14993735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138894971	chr20:14993771-14993772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78307721	chr20:14993774-14993775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115421480	chr20:14993775-14993776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572868283	chr20:14993806-14993807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577832351	chr20:14993853-14993854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564940897	chr20:14993904-14993905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537308579	chr20:14994023-14994024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536290435	chr20:14994050-14994051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371216183	chr20:14994089-14994090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532375750	chr20:14994158-14994159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544073351	chr20:14994167-14994168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562470452	chr20:14994173-14994174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557236091	chr20:14994178-14994179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	17363583	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14986600-14992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14986600-14993400	Weak transcription	HepG2	liver
3	chr20:14986600-14996400	Weak transcription	Ovary	ovary
4	chr20:14988600-14992800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:14991000-14993400	Enhancers	Fetal Kidney	kidney
6	chr20:14991600-14993800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:14991600-14994200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:14991600-14994600	Enhancers	Fetal Thymus	thymus
9	chr20:14991600-14994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14991800-14992600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:14992000-14993200	Weak transcription	Gastric	stomach
12	chr20:14992200-14993400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr20:14992200-14993800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:14992200-14994800	Enhancers	Thymus	Thymus
15	chr20:14992400-14993800	Enhancers	Brain Germinal Matrix	brain
16	chr20:14992800-14994200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:14992800-14994400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr20:14993000-14993600	Enhancers	Fetal Brain Female	brain
19	chr20:14993000-14993600	Enhancers	Dnd41	blood
20	chr20:14993000-14994000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:14993200-14993600	Enhancers	Primary T cells from cord blood	blood
22	chr20:14993200-14994000	Enhancers	Fetal Muscle Leg	muscle
23	chr20:14993400-14993600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:14993400-14993600	Enhancers	Gastric	stomach
25	chr20:14993400-14993600	Enhancers	HepG2	liver
26	chr20:14993400-14994200	Enhancers	Fetal Muscle Trunk	muscle
27	chr20:14994600-14997000	Weak transcription	Fetal Thymus	thymus
28	chr20:14996400-14997200	Enhancers	Ovary	ovary
29	chr20:14996600-14997600	Enhancers	HepG2	liver
30	chr20:14997000-14997400	Enhancers	Fetal Thymus	thymus
31	chr20:15003400-15004200	Enhancers	HMEC	breast
32	chr20:15004000-15004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:15004200-15007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:15006200-15006400	Enhancers	Brain Germinal Matrix	brain
35	chr20:15006400-15006600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr20:15006400-15007400	Weak transcription	Brain Germinal Matrix	brain
37	chr20:15006400-15008000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr20:15006600-15007200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr20:15006600-15007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr20:15007200-15008000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr20:15007200-15008000	Enhancers	Fetal Brain Female	brain
42	chr20:15007400-15008000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:15007400-15008200	Enhancers	Brain Germinal Matrix	brain
44	chr20:15007600-15008000	Enhancers	Fetal Brain Male	brain
45	chr20:15008800-15009200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr20:15009200-15012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr20:15009400-15009800	Enhancers	Ovary	ovary
48	chr20:15009600-15009800	Enhancers	Gastric	stomach
49	chr20:15009800-15011400	Weak transcription	Gastric	stomach
50	chr20:15011400-15011600	Enhancers	Gastric	stomach

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