Variant report

Variant	nsv1062923
Chromosome Location	chr20:14941259-15101602
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	chr20:14965101-14967567	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:14971646-14973208	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:14959886-14961038	HepG2	liver:	n/a	n/a
7	ATF3	chr20:14966529-14967363	A549	lung:	n/a	n/a
8	ATF3	chr20:14965454-14966225	A549	lung:	n/a	n/a
9	ATF3	chr20:14966508-14967301	A549	lung:	n/a	n/a
10	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
12	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
13	BCL3	chr20:14966427-14967324	A549	lung:	n/a	n/a
14	BCL3	chr20:14965529-14966338	A549	lung:	n/a	chr20:14966177-14966184
15	BCL3	chr20:14966411-14967352	A549	lung:	n/a	n/a
16	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
17	BHLHE40	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
18	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
19	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
20	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
21	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
22	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
23	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
25	BRCA1	chr20:14943807-14944695	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
27	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
28	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:14965680-14966111	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:14943912-14944387	A549	lung:	n/a	n/a
31	CEBPB	chr20:15013078-15013237	H1-hESC	embryonic stem cell:	n/a	chr20:15013102-15013113
32	CEBPB	chr20:14971698-14972061	HepG2	liver:	n/a	chr20:14971798-14971811
33	CEBPB	chr20:14965614-14966243	A549	lung:	n/a	n/a
34	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
36	CEBPB	chr20:14949044-14949348	HepG2	liver:	n/a	chr20:14949185-14949196 chr20:14949184-14949197 chr20:14949186-14949195 chr20:14949184-14949195
37	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
38	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
39	CEBPB	chr20:14965654-14966114	A549	lung:	n/a	n/a
40	CEBPB	chr20:14943969-14944439	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
42	CEBPB	chr20:14965655-14966093	A549	lung:	n/a	n/a
43	CEBPB	chr20:15041135-15041621	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
44	CEBPB	chr20:14966677-14967240	HepG2	liver:	n/a	chr20:14967070-14967081
45	CEBPB	chr20:14971616-14972081	Hela-S3	cervix:	n/a	chr20:14971798-14971811
46	CEBPB	chr20:14966473-14967444	A549	lung:	n/a	chr20:14967070-14967081
47	CEBPB	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
48	CEBPB	chr20:14978469-14978869	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr20:14989638-14989863	A549	lung:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751
50	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14050662..14052329-chr20:14946506..14948938,2	MCF-7	breast:
2	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:
3	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
4	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:

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

Extended variants
information (count: 5193 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:5193 , 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	rs192968956	chr20:14941310-14941311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539812546	chr20:14941318-14941319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184684583	chr20:14941327-14941328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558569693	chr20:14941328-14941329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532193766	chr20:14941363-14941364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550508343	chr20:14941409-14941410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562751719	chr20:14941416-14941417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114854002	chr20:14941450-14941451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs353148	chr20:14941455-14941456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs368071682	chr20:14941477-14941478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34876391	chr20:14941479-14941480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551801874	chr20:14941539-14941540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573129307	chr20:14941543-14941544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189705041	chr20:14941557-14941558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79663168	chr20:14941559-14941560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562225473	chr20:14941571-14941572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151259034	chr20:14941613-14941614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140425144	chr20:14941628-14941629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552503669	chr20:14941635-14941636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570858229	chr20:14941658-14941659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112965942	chr20:14941756-14941757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377059685	chr20:14941771-14941772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184886511	chr20:14941790-14941791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574723346	chr20:14941838-14941839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535629966	chr20:14941856-14941857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554063647	chr20:14941866-14941867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571924295	chr20:14941875-14941876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189353135	chr20:14941919-14941920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150430152	chr20:14941981-14941982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145233250	chr20:14942003-14942004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576763058	chr20:14942024-14942025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541988035	chr20:14942034-14942035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149160603	chr20:14942059-14942060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560425115	chr20:14942179-14942180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6135317	chr20:14942218-14942219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144805426	chr20:14942234-14942235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138664704	chr20:14942235-14942236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116580921	chr20:14942263-14942264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181841510	chr20:14942278-14942279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564543991	chr20:14942282-14942283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527535488	chr20:14942287-14942288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552185321	chr20:14942288-14942289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570864748	chr20:14942289-14942290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537832678	chr20:14942299-14942300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11697217	chr20:14942307-14942308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2423875	chr20:14942340-14942341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535666462	chr20:14942343-14942344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553909935	chr20:14942355-14942356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6034070	chr20:14942361-14942362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200833228	chr20:14942436-14942437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	20531469	CNVD
Melanoma	17363583	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14932200-14947600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:14933000-14944200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:14934000-14943400	Weak transcription	HUVEC	blood vessel
4	chr20:14936600-14944000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr20:14937000-14943600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr20:14937000-14943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr20:14937000-14943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr20:14938200-14943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:14938200-14944000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr20:14938600-14941400	Enhancers	HMEC	breast
11	chr20:14940400-14941400	Enhancers	A549	lung
12	chr20:14940800-14943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:14941000-14943800	Weak transcription	HepG2	liver
14	chr20:14941200-14942600	Weak transcription	Hela-S3	cervix
15	chr20:14941200-14942800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:14941200-14943400	Weak transcription	NHEK	skin
17	chr20:14941200-14943600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:14941400-14942800	Weak transcription	A549	lung
19	chr20:14941400-14943400	Weak transcription	HMEC	breast
20	chr20:14942600-14945000	Enhancers	Hela-S3	cervix
21	chr20:14942800-14943000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:14942800-14944000	Enhancers	A549	lung
23	chr20:14943000-14943400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:14943200-14944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:14943400-14944000	Enhancers	HUVEC	blood vessel
26	chr20:14943400-14944000	Enhancers	NHEK	skin
27	chr20:14943400-14944400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:14943400-14944600	Enhancers	HMEC	breast
29	chr20:14943600-14944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:14943600-14944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr20:14943600-14944400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr20:14943600-14944400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr20:14943600-14944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr20:14943600-14944400	Enhancers	HSMMtube	muscle
35	chr20:14943600-14944600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:14943600-14944600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr20:14943800-14944200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr20:14943800-14944200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:14943800-14944400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:14943800-14944400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:14943800-14944400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr20:14943800-14944400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr20:14943800-14944400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr20:14943800-14944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:14943800-14944400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr20:14943800-14944400	Enhancers	HSMM	muscle
47	chr20:14943800-14944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr20:14943800-14944600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr20:14943800-14944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:14943800-14944600	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links