Variant report

Variant	nsv1066345
Chromosome Location	chr20:14986036-15101602
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	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
4	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
5	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
6	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
7	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
8	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
9	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
10	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
11	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:15041135-15041621	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
13	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
14	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
15	CEBPB	chr20:14989638-14989863	A549	lung:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751
16	CEBPB	chr20:15042545-15043095	MCF-7	breast:	n/a	chr20:15042893-15042904
17	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
18	CEBPB	chr20:15013078-15013237	H1-hESC	embryonic stem cell:	n/a	chr20:15013102-15013113
19	CEBPB	chr20:14989586-14989920	HepG2	liver:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751
20	CEBPB	chr20:15012975-15013232	HepG2	liver:	n/a	chr20:15013102-15013113
21	CEBPB	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
22	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
24	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
25	CEBPB	chr20:15041173-15041651	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
26	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
27	CEBPB	chr20:15027696-15027949	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr20:15026013-15026308	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
31	CEBPB	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a
32	CEBPB	chr20:15027700-15027838	A549	lung:	n/a	n/a
33	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
34	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
35	CEBPB	chr20:15041282-15041553	A549	lung:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
36	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
37	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:15040911-15041602	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
39	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPD	chr20:15041207-15041548	HepG2	liver:	n/a	n/a
41	CHD2	chr20:15042505-15042885	HepG2	liver:	n/a	n/a
42	CHD2	chr20:14986122-14986130	HepG2	liver:	n/a	n/a
43	CHD2	chr20:15058609-15058743	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr20:15041252-15041588	HepG2	liver:	n/a	n/a
45	CTCF	chr20:14992220-14992370	BE2_C	brain:	n/a	n/a
46	CTCF	chr20:14996820-14996970	GM12871	blood:	n/a	n/a
47	CTCF	chr20:15073440-15073610	K562	blood:	n/a	n/a
48	CTCF	chr20:15042640-15042790	Caco-2	colon:	n/a	n/a
49	CTCF	chr20:15041700-15041850	NHEK	skin:	n/a	n/a
50	CTCF	chr20:15033267-15033311	LNCaP	prostate:	n/a	n/a

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

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

Extended variants
information (count: 3411 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3411 , 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	rs185798242	chr20:14986040-14986041	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144701177	chr20:14986076-14986077	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190068824	chr20:14986089-14986090	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555898980	chr20:14986100-14986101	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8123551	chr20:14986155-14986156	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560854469	chr20:14986157-14986158	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180913348	chr20:14986275-14986276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186047792	chr20:14986277-14986278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148497754	chr20:14986280-14986281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572564971	chr20:14986310-14986311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532246919	chr20:14986317-14986318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550747762	chr20:14986322-14986323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8117626	chr20:14986344-14986345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564627451	chr20:14986348-14986349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35443208	chr20:14986357-14986358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8123626	chr20:14986412-14986413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566499565	chr20:14986419-14986420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8117676	chr20:14986458-14986459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558584219	chr20:14986507-14986508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376714242	chr20:14986512-14986513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368012540	chr20:14986596-14986597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192125894	chr20:14986618-14986619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144316697	chr20:14986621-14986622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77428646	chr20:14986642-14986643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146567000	chr20:14986643-14986644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533492007	chr20:14986651-14986652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139345981	chr20:14986720-14986721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199733043	chr20:14986787-14986788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560891260	chr20:14986819-14986820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11473589	chr20:14986828-14986829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114160087	chr20:14986847-14986848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540340148	chr20:14986904-14986905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565018868	chr20:14986990-14986991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112692760	chr20:14986998-14986999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532211305	chr20:14987017-14987018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550534999	chr20:14987049-14987050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562667725	chr20:14987077-14987078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6079628	chr20:14987154-14987155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529964489	chr20:14987155-14987156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183965009	chr20:14987158-14987159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6079629	chr20:14987167-14987168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548032303	chr20:14987197-14987198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566533120	chr20:14987235-14987236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529584542	chr20:14987334-14987335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533969399	chr20:14987391-14987392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143409007	chr20:14987435-14987436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372970432	chr20:14987479-14987480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151194003	chr20:14987486-14987487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538323569	chr20:14987529-14987530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13044023	chr20:14987597-14987598	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:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14983400-14986200	Weak transcription	Pancreas	Pancrea
2	chr20:14984600-14986200	Enhancers	Fetal Kidney	kidney
3	chr20:14984600-14986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:14984600-14986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:14984600-14986800	Enhancers	HMEC	breast
6	chr20:14984800-14986200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr20:14985000-14986200	Weak transcription	Ovary	ovary
8	chr20:14985000-14986600	Enhancers	HepG2	liver
9	chr20:14985200-14986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:14985200-14986600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:14985200-14986800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:14985400-14986600	Enhancers	NHEK	skin
13	chr20:14985800-14986200	Flanking Active TSS	Stomach Mucosa	stomach
14	chr20:14985800-14986400	Enhancers	Fetal Intestine Small	intestine
15	chr20:14986000-14986200	Flanking Active TSS	Fetal Heart	heart
16	chr20:14986000-14986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr20:14986000-14986400	Enhancers	Fetal Intestine Large	intestine
18	chr20:14986200-14986400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr20:14986200-14986400	Enhancers	Pancreas	Pancrea
20	chr20:14986200-14986400	Enhancers	A549	lung
21	chr20:14986200-14986600	Enhancers	Fetal Heart	heart
22	chr20:14986200-14986600	Enhancers	Ovary	ovary
23	chr20:14986200-14986600	Enhancers	Stomach Mucosa	stomach
24	chr20:14986200-14991000	Weak transcription	Fetal Kidney	kidney
25	chr20:14986400-14987400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr20:14986400-14990600	Weak transcription	Fetal Intestine Large	intestine
27	chr20:14986600-14987400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr20:14986600-14992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:14986600-14993400	Weak transcription	HepG2	liver
30	chr20:14986600-14996400	Weak transcription	Ovary	ovary
31	chr20:14987000-14988600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr20:14987400-14987800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr20:14987400-14988600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr20:14987800-14991600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:14988400-14988600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:14988600-14992800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr20:14989200-14992000	Enhancers	Fetal Intestine Small	intestine
38	chr20:14990600-14991000	Enhancers	Fetal Intestine Large	intestine
39	chr20:14990600-14991000	Enhancers	Small Intestine	intestine
40	chr20:14990600-14991200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr20:14990800-14991000	Enhancers	Fetal Lung	lung
42	chr20:14991000-14993400	Enhancers	Fetal Kidney	kidney
43	chr20:14991600-14992000	Enhancers	Gastric	stomach
44	chr20:14991600-14993800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:14991600-14994200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:14991600-14994600	Enhancers	Fetal Thymus	thymus
47	chr20:14991600-14994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:14991800-14992600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:14992000-14993200	Weak transcription	Gastric	stomach
50	chr20:14992200-14993400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links