Variant report

Variant	nsv1060511
Chromosome Location	chr20:14982565-15157970
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	chr20:15144336-15144711	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
6	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
7	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
8	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
10	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
11	BATF	chr20:15142631-15143004	GM12878	blood:	n/a	n/a
12	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
13	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
14	BCLAF1	chr20:15142637-15143439	GM12878	blood:	n/a	n/a
15	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
16	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
17	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
18	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
19	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
20	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
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	chr20:15151692-15151964	A549	lung:	n/a	chr20:15151830-15151841
23	CEBPB	chr20:15150774-15151075	HepG2	liver:	n/a	chr20:15150914-15150925
24	CEBPB	chr20:15135330-15135606	HepG2	liver:	n/a	chr20:15135473-15135484
25	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
28	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
29	CEBPB	chr20:15127824-15128039	A549	lung:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
30	CEBPB	chr20:15012975-15013232	HepG2	liver:	n/a	chr20:15013102-15013113
31	CEBPB	chr20:15146524-15146700	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:15127779-15128095	HepG2	liver:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
33	CEBPB	chr20:15042545-15043095	MCF-7	breast:	n/a	chr20:15042893-15042904
34	CEBPB	chr20:15041282-15041553	A549	lung:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
35	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
36	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
37	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
38	CEBPB	chr20:15027696-15027949	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:15027700-15027838	A549	lung:	n/a	n/a
40	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
42	CEBPB	chr20:14989586-14989920	HepG2	liver:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751
43	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
44	CEBPB	chr20:15041173-15041651	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
45	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
46	CEBPB	chr20:15127751-15128049	MCF-7	breast:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
47	CEBPB	chr20:15151669-15151977	HepG2	liver:	n/a	chr20:15151830-15151841
48	CEBPB	chr20:15040911-15041602	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
49	CEBPB	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a
50	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
2	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
3	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: 5166 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:5166 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552040142	chr20:14982569-14982570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570231668	chr20:14982578-14982579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185454441	chr20:14982579-14982580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555976825	chr20:14982591-14982592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138661515	chr20:14982592-14982593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144284592	chr20:14982622-14982623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368853073	chr20:14982676-14982677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189920949	chr20:14982707-14982708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78916596	chr20:14982721-14982722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74580039	chr20:14982731-14982732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553348005	chr20:14982735-14982736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112324695	chr20:14982742-14982743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545477276	chr20:14982754-14982755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146489212	chr20:14982758-14982759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534640519	chr20:14982846-14982847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112181025	chr20:14982889-14982890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543360248	chr20:14982904-14982905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577582561	chr20:14982911-14982912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144899079	chr20:14982932-14982933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199572306	chr20:14982933-14982934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138777078	chr20:14982935-14982936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117743934	chr20:14982938-14982939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182172924	chr20:14982967-14982968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188790011	chr20:14983003-14983004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148897199	chr20:14983016-14983017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570160849	chr20:14983019-14983020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6135322	chr20:14983099-14983100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143468761	chr20:14983168-14983169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573830767	chr20:14983172-14983173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147978371	chr20:14983207-14983208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567997424	chr20:14983234-14983235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534965693	chr20:14983244-14983245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192123570	chr20:14983248-14983249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116823219	chr20:14983267-14983268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539150281	chr20:14983283-14983284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77057182	chr20:14983291-14983292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59245673	chr20:14983292-14983293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367912093	chr20:14983307-14983308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200152206	chr20:14983331-14983332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145637081	chr20:14983338-14983339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139257107	chr20:14983346-14983347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111881651	chr20:14983348-14983349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183607092	chr20:14983396-14983397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188652145	chr20:14983398-14983399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192758885	chr20:14983412-14983413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549707507	chr20:14983413-14983414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569689807	chr20:14983432-14983433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559803724	chr20:14983482-14983483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141686523	chr20:14983524-14983525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78613630	chr20:14983541-14983542	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:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14979000-14985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14983200-14983400	Enhancers	Pancreas	Pancrea
3	chr20:14983400-14986200	Weak transcription	Pancreas	Pancrea
4	chr20:14983600-14984800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:14983800-14984800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr20:14984200-14984800	Enhancers	Fetal Intestine Large	intestine
7	chr20:14984200-14985000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:14984400-14985200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr20:14984400-14985600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr20:14984400-14985800	Enhancers	Stomach Mucosa	stomach
11	chr20:14984600-14984800	Enhancers	Fetal Intestine Small	intestine
12	chr20:14984600-14985000	Enhancers	Ovary	ovary
13	chr20:14984600-14985400	Enhancers	Fetal Heart	heart
14	chr20:14984600-14986200	Enhancers	Fetal Kidney	kidney
15	chr20:14984600-14986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:14984600-14986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:14984600-14986800	Enhancers	HMEC	breast
18	chr20:14984800-14985800	Weak transcription	Fetal Intestine Small	intestine
19	chr20:14984800-14986000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr20:14984800-14986000	Weak transcription	Fetal Intestine Large	intestine
21	chr20:14984800-14986200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr20:14985000-14986000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:14985000-14986200	Weak transcription	Ovary	ovary
24	chr20:14985000-14986600	Enhancers	HepG2	liver
25	chr20:14985200-14986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:14985200-14986600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:14985200-14986800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:14985400-14985600	Flanking Active TSS	Fetal Heart	heart
29	chr20:14985400-14985600	Enhancers	A549	lung
30	chr20:14985400-14986600	Enhancers	NHEK	skin
31	chr20:14985600-14986000	Enhancers	Fetal Heart	heart
32	chr20:14985800-14986200	Flanking Active TSS	Stomach Mucosa	stomach
33	chr20:14985800-14986400	Enhancers	Fetal Intestine Small	intestine
34	chr20:14986000-14986200	Flanking Active TSS	Fetal Heart	heart
35	chr20:14986000-14986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:14986000-14986400	Enhancers	Fetal Intestine Large	intestine
37	chr20:14986200-14986400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr20:14986200-14986400	Enhancers	Pancreas	Pancrea
39	chr20:14986200-14986400	Enhancers	A549	lung
40	chr20:14986200-14986600	Enhancers	Fetal Heart	heart
41	chr20:14986200-14986600	Enhancers	Ovary	ovary
42	chr20:14986200-14986600	Enhancers	Stomach Mucosa	stomach
43	chr20:14986200-14991000	Weak transcription	Fetal Kidney	kidney
44	chr20:14986400-14987400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:14986400-14990600	Weak transcription	Fetal Intestine Large	intestine
46	chr20:14986600-14987400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:14986600-14992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:14986600-14993400	Weak transcription	HepG2	liver
49	chr20:14986600-14996400	Weak transcription	Ovary	ovary
50	chr20:14987000-14988600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links