Variant report

Variant	nsv585556
Chromosome Location	chr20:14921539-15110426
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	chr20:14971646-14973208	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:14959886-14961038	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:14936639-14937073	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:14965101-14967567	HepG2	liver:	n/a	n/a
8	ATF3	chr20:14966508-14967301	A549	lung:	n/a	n/a
9	ATF3	chr20:14965454-14966225	A549	lung:	n/a	n/a
10	ATF3	chr20:14966529-14967363	A549	lung:	n/a	n/a
11	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr20:14931782-14932075	GM12878	blood:	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	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
19	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
20	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
21	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
22	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
23	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
24	BRCA1	chr20:14943807-14944695	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
26	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr20:14936483-14937509	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
29	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
30	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
31	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:14936013-14936427	HepG2	liver:	n/a	n/a
33	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
34	CEBPB	chr20:14971613-14972080	HepG2	liver:	n/a	chr20:14971798-14971811
35	CEBPB	chr20:14966892-14967224	HepG2	liver:	n/a	chr20:14967070-14967081
36	CEBPB	chr20:14989586-14989920	HepG2	liver:	n/a	chr20:14989740-14989751 chr20:14989742-14989753 chr20:14989740-14989753 chr20:14989742-14989751
37	CEBPB	chr20:14942108-14942314	A549	lung:	n/a	chr20:14942229-14942240
38	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
40	CEBPB	chr20:14940190-14940484	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:14940164-14940465	HepG2	liver:	n/a	n/a
42	CEBPB	chr20:14966774-14967213	HepG2	liver:	n/a	chr20:14967070-14967081
43	CEBPB	chr20:14944001-14944439	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr20:14936021-14936428	A549	lung:	n/a	n/a
45	CEBPB	chr20:14940187-14940533	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
47	CEBPB	chr20:14971668-14972048	A549	lung:	n/a	chr20:14971798-14971811
48	CEBPB	chr20:14972648-14973239	A549	lung:	n/a	chr20:14972825-14972837
49	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
50	CEBPB	chr20:14965601-14966250	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14925222..14927929-chr20:14930721..14932848,2	MCF-7	breast:
2	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
3	chr20:14845184..14847390-chr20:14926741..14929314,2	MCF-7	breast:
4	chr20:14314384..14315320-chr20:14929469..14930347,2	MCF-7	breast:
5	chr20:14050662..14052329-chr20:14946506..14948938,2	MCF-7	breast:
6	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
7	chr20:14856302..14859235-chr20:14930877..14933226,2	MCF-7	breast:
8	chr20:14925222..14927929-chr20:14930721..14932848,2	MCF-7	breast:
9	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: 6000 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:6000 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2104351	chr20:14921539-14921540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116870025	chr20:14921550-14921551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113669926	chr20:14921578-14921579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140783721	chr20:14921579-14921580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200133534	chr20:14921582-14921583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4299400	chr20:14921606-14921607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs2423863	chr20:14921686-14921687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183239020	chr20:14921731-14921732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140673477	chr20:14921741-14921742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145834193	chr20:14921867-14921868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138399515	chr20:14921887-14921888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562077920	chr20:14921924-14921925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529517555	chr20:14921925-14921926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368458163	chr20:14921942-14921943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143110282	chr20:14921961-14921962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150268749	chr20:14921992-14921993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6043013	chr20:14921995-14921996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527385427	chr20:14922026-14922027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552036126	chr20:14922044-14922045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79945616	chr20:14922049-14922050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371862455	chr20:14922075-14922076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538073895	chr20:14922103-14922104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549982064	chr20:14922113-14922114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377568113	chr20:14922195-14922196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535711817	chr20:14922266-14922267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114229659	chr20:14922284-14922285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369714391	chr20:14922289-14922290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565886256	chr20:14922293-14922294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539817271	chr20:14922294-14922295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6079613	chr20:14922298-14922299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558010340	chr20:14922326-14922327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576110725	chr20:14922335-14922336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376514980	chr20:14922352-14922353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6043014	chr20:14922360-14922361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555507851	chr20:14922363-14922364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574005602	chr20:14922399-14922400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541315730	chr20:14922422-14922423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11484003	chr20:14922428-14922429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6079614	chr20:14922474-14922475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149342930	chr20:14922514-14922515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144740610	chr20:14922540-14922541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545769599	chr20:14922559-14922560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564200485	chr20:14922589-14922590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11479452	chr20:14922596-14922597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531404677	chr20:14922602-14922603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60656545	chr20:14922609-14922610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140014509	chr20:14922632-14922633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568216881	chr20:14922656-14922657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6034069	chr20:14922671-14922672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529202915	chr20:14922705-14922706	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:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14905800-14931800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14915200-14936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:14920400-14923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:14921000-14924800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr20:14923200-14923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:14923200-14923400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:14923200-14923600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:14923200-14923800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:14923200-14924000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14923200-14924000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:14923200-14924000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:14923200-14924400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:14923200-14924600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr20:14923400-14923800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:14923400-14923800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr20:14923400-14927400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr20:14923600-14924000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:14923600-14924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:14923600-14928000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr20:14923800-14924600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr20:14923800-14927800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr20:14924000-14927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:14924000-14927800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr20:14924000-14928000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr20:14924000-14928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr20:14924400-14928000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr20:14924600-14928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr20:14924800-14925400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr20:14925400-14927800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr20:14927400-14928400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr20:14927400-14928800	Enhancers	Fetal Heart	heart
32	chr20:14927400-14929000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:14927600-14928000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:14927600-14929400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr20:14927600-14929600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:14927800-14928400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr20:14927800-14929000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr20:14927800-14929200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr20:14927800-14929400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr20:14927800-14929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr20:14927800-14929600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr20:14928000-14929400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr20:14928000-14929600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr20:14928000-14929600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:14928000-14929800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr20:14928000-14931800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:14928200-14928600	Enhancers	Fetal Stomach	stomach
48	chr20:14928200-14929000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr20:14928200-14929400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr20:14928200-14929400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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