Variant report

Variant	nsv1058314
Chromosome Location	chr20:14978835-15149030
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	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
6	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
7	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
8	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
10	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
11	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
12	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
13	BATF	chr20:15142631-15143004	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	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
18	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
19	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
20	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
21	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
22	CEBPB	chr20:14978469-14978869	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
26	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
27	CEBPB	chr20:15146524-15146700	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
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	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a
31	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
32	CEBPB	chr20:15041173-15041651	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
33	CEBPB	chr20:14981614-14981781	HepG2	liver:	n/a	chr20:14981704-14981715
34	CEBPB	chr20:15135330-15135606	HepG2	liver:	n/a	chr20:15135473-15135484
35	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
36	CEBPB	chr20:15120303-15120457	HepG2	liver:	n/a	n/a
37	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
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	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
40	CEBPB	chr20:14978443-14978984	A549	lung:	n/a	n/a
41	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
42	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
43	CEBPB	chr20:14989638-14989863	A549	lung:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751
44	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
45	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a
46	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
47	CEBPB	chr20:15041282-15041553	A549	lung:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
48	CEBPB	chr20:15041135-15041621	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
49	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
50	CEBPB	chr20:14989586-14989920	HepG2	liver:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751

No.	Distal block	Cell Line	Cell type
1	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:
2	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
3	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:

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

Extended variants
information (count: 4974 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4974 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554522794	chr20:14978863-14978864	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138537002	chr20:14978895-14978896	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74760708	chr20:14978898-14978899	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141132141	chr20:14978934-14978935	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576949603	chr20:14979069-14979070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8120348	chr20:14979110-14979111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531822344	chr20:14979122-14979123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556730005	chr20:14979171-14979172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574904806	chr20:14979175-14979176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542510937	chr20:14979219-14979220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183790638	chr20:14979242-14979243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542596305	chr20:14979290-14979291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6105353	chr20:14979317-14979318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150714714	chr20:14979328-14979329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188061257	chr20:14979347-14979348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6105354	chr20:14979392-14979393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137995710	chr20:14979409-14979410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532260714	chr20:14979430-14979431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550668784	chr20:14979481-14979482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569037840	chr20:14979542-14979543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6105355	chr20:14979598-14979599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376970523	chr20:14979623-14979624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6110489	chr20:14979660-14979661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181989869	chr20:14979718-14979719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548358294	chr20:14979721-14979722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566702171	chr20:14979775-14979776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533811207	chr20:14979796-14979797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7351389	chr20:14979799-14979800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545664861	chr20:14979870-14979871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184760478	chr20:14979890-14979891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555915922	chr20:14979920-14979921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374212290	chr20:14979940-14979941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537969472	chr20:14979982-14979983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76308331	chr20:14980012-14980013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574984981	chr20:14980029-14980030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535328530	chr20:14980061-14980062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114645437	chr20:14980093-14980094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541505043	chr20:14980179-14980180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373095922	chr20:14980193-14980194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555251573	chr20:14980194-14980195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565457734	chr20:14980206-14980207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572811500	chr20:14980242-14980243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546894330	chr20:14980295-14980296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546486712	chr20:14980300-14980301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564897494	chr20:14980339-14980340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548928021	chr20:14980342-14980343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532099594	chr20:14980355-14980356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544306534	chr20:14980416-14980417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6105356	chr20:14980443-14980444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6105357	chr20:14980454-14980455	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:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14977200-14979000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:14977200-14979000	Enhancers	HMEC	breast
3	chr20:14977400-14979000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14977400-14979000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:14977600-14979000	Enhancers	Hela-S3	cervix
6	chr20:14978200-14979000	Enhancers	HUVEC	blood vessel
7	chr20:14978400-14979000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr20:14978400-14979000	Enhancers	NHEK	skin
9	chr20:14978600-14981000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:14979000-14985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:14983200-14983400	Enhancers	Pancreas	Pancrea
12	chr20:14983400-14986200	Weak transcription	Pancreas	Pancrea
13	chr20:14983600-14984800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:14983800-14984800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr20:14984200-14984800	Enhancers	Fetal Intestine Large	intestine
16	chr20:14984200-14985000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:14984400-14985200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:14984400-14985600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr20:14984400-14985800	Enhancers	Stomach Mucosa	stomach
20	chr20:14984600-14984800	Enhancers	Fetal Intestine Small	intestine
21	chr20:14984600-14985000	Enhancers	Ovary	ovary
22	chr20:14984600-14985400	Enhancers	Fetal Heart	heart
23	chr20:14984600-14986200	Enhancers	Fetal Kidney	kidney
24	chr20:14984600-14986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:14984600-14986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:14984600-14986800	Enhancers	HMEC	breast
27	chr20:14984800-14985800	Weak transcription	Fetal Intestine Small	intestine
28	chr20:14984800-14986000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:14984800-14986000	Weak transcription	Fetal Intestine Large	intestine
30	chr20:14984800-14986200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr20:14985000-14986000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:14985000-14986200	Weak transcription	Ovary	ovary
33	chr20:14985000-14986600	Enhancers	HepG2	liver
34	chr20:14985200-14986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:14985200-14986600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:14985200-14986800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:14985400-14985600	Flanking Active TSS	Fetal Heart	heart
38	chr20:14985400-14985600	Enhancers	A549	lung
39	chr20:14985400-14986600	Enhancers	NHEK	skin
40	chr20:14985600-14986000	Enhancers	Fetal Heart	heart
41	chr20:14985800-14986200	Flanking Active TSS	Stomach Mucosa	stomach
42	chr20:14985800-14986400	Enhancers	Fetal Intestine Small	intestine
43	chr20:14986000-14986200	Flanking Active TSS	Fetal Heart	heart
44	chr20:14986000-14986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:14986000-14986400	Enhancers	Fetal Intestine Large	intestine
46	chr20:14986200-14986400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr20:14986200-14986400	Enhancers	Pancreas	Pancrea
48	chr20:14986200-14986400	Enhancers	A549	lung
49	chr20:14986200-14986600	Enhancers	Fetal Heart	heart
50	chr20:14986200-14986600	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links