Variant report

Variant	nsv585558
Chromosome Location	chr20:14931494-15103600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1411)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1411 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:14971646-14973208	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:14965101-14967567	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:14936639-14937073	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:14959886-14961038	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
8	ATF3	chr20:14966529-14967363	A549	lung:	n/a	n/a
9	ATF3	chr20:14966508-14967301	A549	lung:	n/a	n/a
10	ATF3	chr20:14965454-14966225	A549	lung:	n/a	n/a
11	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
13	BATF	chr20:14931782-14932075	GM12878	blood:	n/a	n/a
14	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
15	BCL3	chr20:14965529-14966338	A549	lung:	n/a	chr20:14966177-14966184
16	BCL3	chr20:14966427-14967324	A549	lung:	n/a	n/a
17	BCL3	chr20:14966411-14967352	A549	lung:	n/a	n/a
18	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
19	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
20	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
21	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
22	BHLHE40	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
23	BRCA1	chr20:14943807-14944695	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr20:14936483-14937509	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
27	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
28	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
29	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
30	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
31	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
33	CEBPB	chr20:14936709-14937068	HepG2	liver:	n/a	n/a
34	CEBPB	chr20:14932597-14932787	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:14966677-14967240	HepG2	liver:	n/a	chr20:14967070-14967081
36	CEBPB	chr20:15027696-15027949	HepG2	liver:	n/a	n/a
37	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
38	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
39	CEBPB	chr20:14966720-14967254	Hela-S3	cervix:	n/a	chr20:14967070-14967081
40	CEBPB	chr20:14940170-14940552	A549	lung:	n/a	n/a
41	CEBPB	chr20:14936758-14937054	A549	lung:	n/a	n/a
42	CEBPB	chr20:14965654-14966114	A549	lung:	n/a	n/a
43	CEBPB	chr20:14940171-14940542	IMR90	lung:	n/a	n/a
44	CEBPB	chr20:14965680-14966111	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:14936021-14936428	A549	lung:	n/a	n/a
46	CEBPB	chr20:14966892-14967224	HepG2	liver:	n/a	chr20:14967070-14967081
47	CEBPB	chr20:14966657-14967337	HCT-116	colon:	n/a	chr20:14967070-14967081
48	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
49	CEBPB	chr20:14942090-14942394	HepG2	liver:	n/a	chr20:14942229-14942240
50	CEBPB	chr20:14943969-14944439	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:
2	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
3	chr20:14050662..14052329-chr20:14946506..14948938,2	MCF-7	breast:
4	chr20:14925222..14927929-chr20:14930721..14932848,2	MCF-7	breast:
5	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
6	chr20:14856302..14859235-chr20:14930877..14933226,2	MCF-7	breast:

No data

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

Extended variants
information (count: 5639 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:5639 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs353147	chr20:14931494-14931495	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576213178	chr20:14931498-14931499	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs171316	chr20:14931508-14931509	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555166099	chr20:14931513-14931514	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573819349	chr20:14931532-14931533	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79372354	chr20:14931614-14931615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559244898	chr20:14931634-14931635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533024429	chr20:14931638-14931639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545012440	chr20:14931659-14931660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113434024	chr20:14931669-14931670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530809770	chr20:14931681-14931682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549499037	chr20:14931689-14931690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79213463	chr20:14931692-14931693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386812734	chr20:14931779-14931780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs168481	chr20:14931780-14931781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571987945	chr20:14931810-14931811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115783831	chr20:14931832-14931833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117949279	chr20:14931870-14931871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569716772	chr20:14931879-14931880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2423872	chr20:14931893-14931894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555474627	chr20:14931919-14931920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145954119	chr20:14931925-14931926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541236760	chr20:14931953-14931954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552708404	chr20:14931961-14931962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182629566	chr20:14931976-14931977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544947272	chr20:14931980-14931981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139808199	chr20:14932020-14932021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529357159	chr20:14932035-14932036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571787481	chr20:14932036-14932037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185435817	chr20:14932069-14932070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74923238	chr20:14932076-14932077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189795247	chr20:14932093-14932094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547226527	chr20:14932133-14932134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571824836	chr20:14932136-14932137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534774575	chr20:14932198-14932199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532752097	chr20:14932205-14932206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551337008	chr20:14932217-14932218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs143279177	chr20:14932245-14932246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146686727	chr20:14932246-14932247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555028770	chr20:14932311-14932312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371681832	chr20:14932325-14932326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141358340	chr20:14932379-14932380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs6043016	chr20:14932401-14932402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552645168	chr20:14932410-14932411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369208654	chr20:14932492-14932493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182440716	chr20:14932524-14932525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76697133	chr20:14932543-14932544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs200233310	chr20:14932562-14932563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556862399	chr20:14932565-14932566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536488905	chr20:14932576-14932577	Enhancers Weak transcription Flanking Active TSS	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:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr20:14928000-14931800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:14929000-14931600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr20:14929400-14931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:14929400-14931600	Weak transcription	Ovary	ovary
7	chr20:14929400-14932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr20:14929400-14932200	Weak transcription	A549	lung
9	chr20:14929600-14931600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr20:14929600-14931600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:14929600-14936800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:14930400-14932400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr20:14930400-14936000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:14931000-14933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:14931200-14931600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr20:14931200-14932000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:14931200-14932200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr20:14931200-14932400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr20:14931200-14932800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr20:14931200-14933000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr20:14931400-14932600	Enhancers	GM12878-XiMat	blood
22	chr20:14931400-14933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:14931400-14936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:14931600-14931800	Enhancers	Ovary	ovary
25	chr20:14931600-14932200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:14931600-14932200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr20:14931600-14932200	Enhancers	HUVEC	blood vessel
28	chr20:14931600-14932400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr20:14931600-14932600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:14931600-14933000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr20:14931600-14933000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr20:14931600-14933200	Enhancers	NHDF-Ad	bronchial
33	chr20:14931800-14932200	Weak transcription	Ovary	ovary
34	chr20:14931800-14933000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr20:14931800-14933000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:14931800-14933200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr20:14931800-14933200	Enhancers	HMEC	breast
38	chr20:14931800-14933600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr20:14931800-14933800	Enhancers	Hela-S3	cervix
40	chr20:14932000-14932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr20:14932000-14933000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr20:14932000-14933200	Enhancers	HSMM	muscle
43	chr20:14932000-14933200	Enhancers	HSMMtube	muscle
44	chr20:14932000-14933200	Enhancers	NHEK	skin
45	chr20:14932000-14936000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:14932200-14932600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:14932200-14933000	Enhancers	Ovary	ovary
48	chr20:14932200-14933000	Enhancers	HepG2	liver
49	chr20:14932200-14933000	Flanking Active TSS	HUVEC	blood vessel
50	chr20:14932200-14933200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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