Variant report

Variant	nsv912777
Chromosome Location	chr20:14936935-15141959
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	chr20:14971646-14973208	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:14959886-14961038	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	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:14936639-14937073	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
9	ATF3	chr20:14966529-14967363	A549	lung:	n/a	n/a
10	ATF3	chr20:14965454-14966225	A549	lung:	n/a	n/a
11	ATF3	chr20:14966508-14967301	A549	lung:	n/a	n/a
12	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
14	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
15	BCL3	chr20:14966411-14967352	A549	lung:	n/a	n/a
16	BCL3	chr20:14966427-14967324	A549	lung:	n/a	n/a
17	BCL3	chr20:14965529-14966338	A549	lung:	n/a	chr20:14966177-14966184
18	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
19	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
20	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
21	BHLHE40	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
22	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
23	BRCA1	chr20:14936483-14937509	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
25	BRCA1	chr20:14943807-14944695	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
28	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
29	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
30	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
31	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:14981614-14981781	HepG2	liver:	n/a	chr20:14981704-14981715
33	CEBPB	chr20:14940028-14940687	A549	lung:	n/a	n/a
34	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
36	CEBPB	chr20:14978534-14978808	A549	lung:	n/a	n/a
37	CEBPB	chr20:14940170-14940552	A549	lung:	n/a	n/a
38	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
40	CEBPB	chr20:14966720-14967254	Hela-S3	cervix:	n/a	chr20:14967070-14967081
41	CEBPB	chr20:14972681-14973140	A549	lung:	n/a	chr20:14972825-14972837
42	CEBPB	chr20:14972648-14973239	A549	lung:	n/a	chr20:14972825-14972837
43	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
44	CEBPB	chr20:14966705-14967614	HepG2	liver:	n/a	chr20:14967070-14967081
45	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
46	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
47	CEBPB	chr20:14965601-14966250	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:14972815-14973060	HepG2	liver:	n/a	chr20:14972825-14972837
49	CEBPB	chr20:14965655-14966093	A549	lung:	n/a	n/a
50	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416

No.	Distal block	Cell Line	Cell type
1	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
2	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:
3	chr20:14050662..14052329-chr20:14946506..14948938,2	MCF-7	breast:
4	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: 6358 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:6358 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2423873	chr20:14936935-14936936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11478644	chr20:14936954-14936955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189886755	chr20:14936994-14936995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181247728	chr20:14937000-14937001	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186276578	chr20:14937002-14937003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542880651	chr20:14937005-14937006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190696047	chr20:14937032-14937033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151310336	chr20:14937064-14937065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544998503	chr20:14937182-14937183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139336371	chr20:14937183-14937184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181989800	chr20:14937234-14937235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549275809	chr20:14937250-14937251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117057989	chr20:14937252-14937253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186327001	chr20:14937277-14937278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76076473	chr20:14937288-14937289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78272348	chr20:14937289-14937290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113648155	chr20:14937319-14937320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150061879	chr20:14937364-14937365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575504147	chr20:14937443-14937444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576030620	chr20:14937477-14937478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190777583	chr20:14937491-14937492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75217497	chr20:14937508-14937509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147738671	chr20:14937537-14937538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377421930	chr20:14937570-14937571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559214304	chr20:14937571-14937572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577643081	chr20:14937581-14937582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550822433	chr20:14937604-14937605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545045156	chr20:14937639-14937640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563818988	chr20:14937674-14937675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530866191	chr20:14937688-14937689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570101533	chr20:14937699-14937700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142352273	chr20:14937711-14937712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576203079	chr20:14937727-14937728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574332968	chr20:14937746-14937747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61254965	chr20:14937784-14937785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77212476	chr20:14937792-14937793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529927118	chr20:14937877-14937878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182890868	chr20:14937896-14937897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527929524	chr20:14937903-14937904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199570141	chr20:14937904-14937905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530343092	chr20:14937972-14937973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146435558	chr20:14937988-14937989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546872913	chr20:14938006-14938007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528685652	chr20:14938072-14938073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6043017	chr20:14938095-14938096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6043018	chr20:14938136-14938137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116972193	chr20:14938201-14938202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147871497	chr20:14938211-14938212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73093923	chr20:14938221-14938222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538564064	chr20:14938233-14938234	Weak transcription Enhancers	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:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr20:14933200-14938600	Weak transcription	HMEC	breast
4	chr20:14933200-14939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:14934000-14943400	Weak transcription	HUVEC	blood vessel
6	chr20:14936000-14937000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:14936000-14937000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:14936000-14937000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:14936000-14937400	Enhancers	HepG2	liver
10	chr20:14936000-14938200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:14936000-14938200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:14936000-14941200	Enhancers	Hela-S3	cervix
13	chr20:14936200-14937000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:14936200-14937000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr20:14936200-14937000	Flanking Active TSS	A549	lung
16	chr20:14936400-14940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:14936600-14944000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr20:14936800-14937000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr20:14936800-14938400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:14937000-14937600	Enhancers	A549	lung
21	chr20:14937000-14943600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr20:14937000-14943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr20:14937000-14943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr20:14937400-14940200	Weak transcription	HepG2	liver
25	chr20:14937600-14938800	Weak transcription	A549	lung
26	chr20:14938200-14943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:14938200-14944000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:14938400-14939200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr20:14938600-14941400	Enhancers	HMEC	breast
30	chr20:14938800-14939400	Enhancers	A549	lung
31	chr20:14939000-14940800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:14939000-14941200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:14939000-14941200	Enhancers	NHEK	skin
34	chr20:14939200-14939400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr20:14939200-14941200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:14939400-14939600	Enhancers	Gastric	stomach
37	chr20:14939400-14940400	Weak transcription	A549	lung
38	chr20:14940000-14941000	Enhancers	Esophagus	oesophagus
39	chr20:14940200-14940600	Enhancers	Lung	lung
40	chr20:14940200-14941000	Enhancers	HepG2	liver
41	chr20:14940400-14940600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:14940400-14941400	Enhancers	A549	lung
43	chr20:14940800-14943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr20:14941000-14943800	Weak transcription	HepG2	liver
45	chr20:14941200-14942600	Weak transcription	Hela-S3	cervix
46	chr20:14941200-14942800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr20:14941200-14943400	Weak transcription	NHEK	skin
48	chr20:14941200-14943600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr20:14941400-14942800	Weak transcription	A549	lung
50	chr20:14941400-14943400	Weak transcription	HMEC	breast

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