Variant report

Variant	nsv1063917
Chromosome Location	chr20:14939608-15206129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1703)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1703 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:14959886-14961038	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:15144336-15144711	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:14965101-14967567	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:14971646-14973208	HepG2	liver:	n/a	n/a
9	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
10	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
11	ATF2	chr20:15180324-15181228	GM12878	blood:	n/a	n/a
12	ATF2	chr20:15180601-15181187	GM12878	blood:	n/a	n/a
13	ATF3	chr20:14966508-14967301	A549	lung:	n/a	n/a
14	ATF3	chr20:14966529-14967363	A549	lung:	n/a	n/a
15	ATF3	chr20:14965454-14966225	A549	lung:	n/a	n/a
16	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
19	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
20	BATF	chr20:15142631-15143004	GM12878	blood:	n/a	n/a
21	BATF	chr20:15180351-15181277	GM12878	blood:	n/a	chr20:15180905-15180913
22	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
23	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
24	BATF	chr20:15180677-15181088	GM12878	blood:	n/a	chr20:15180905-15180913
25	BCL11A	chr20:15180658-15181150	GM12878	blood:	n/a	n/a
26	BCL11A	chr20:15180758-15180983	GM12878	blood:	n/a	n/a
27	BCL3	chr20:14965529-14966338	A549	lung:	n/a	chr20:14966177-14966184
28	BCL3	chr20:15180753-15181061	GM12878	blood:	n/a	n/a
29	BCL3	chr20:14966411-14967352	A549	lung:	n/a	n/a
30	BCL3	chr20:14966427-14967324	A549	lung:	n/a	n/a
31	BCLAF1	chr20:15142637-15143439	GM12878	blood:	n/a	n/a
32	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
33	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
34	BHLHE40	chr20:15180594-15181323	GM12878	blood:	n/a	n/a
35	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
36	BHLHE40	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
37	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
38	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr20:14943807-14944695	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
41	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
42	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
43	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
44	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
45	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
46	CEBPB	chr20:14971668-14972048	A549	lung:	n/a	chr20:14971798-14971811
47	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
49	CEBPB	chr20:15166769-15166910	HepG2	liver:	n/a	n/a
50	CEBPB	chr20:14940028-14940687	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15176830-15176880	HRCEpiC	kidney:	n/a
2	chr20:15176830-15176880	SK-N-SH	brain:	n/a
3	chr20:15176830-15176880	HCPEpiC	choroid plexus:	n/a
4	chr20:15176557-15176607	SKMC	muscle:	n/a
5	chr20:15176557-15176607	PANC-1	pancreas:	n/a
6	chr20:15177509-15177559	AoSMC	blood vessel:	n/a
7	chr20:15176830-15176880	HAEpiC	amniotic membrane:	n/a
8	chr20:15177509-15177559	AG04450	lung:	fetal
9	chr20:15176557-15176607	U87	brain:	n/a
10	chr20:15177509-15177559	A549	lung:	n/a
11	chr20:15177509-15177559	T-47D	breast:	n/a
12	chr20:15176830-15176880	HNPCEpiC	eye:	n/a
13	chr20:15177509-15177559	HRCEpiC	kidney:	n/a
14	chr20:15177509-15177559	HepG2	liver:	n/a
15	chr20:15177509-15177559	HUVEC	blood vessel:	n/a
16	chr20:15176557-15176607	NH-A	brain:	n/a
17	chr20:15176830-15176880	SKMC	muscle:	n/a
18	chr20:15176557-15176607	HRE	kidney:	n/a
19	chr20:15176557-15176607	BE2_C	brain:	n/a
20	chr20:15177509-15177559	Jurkat	blood:	n/a
21	chr20:15177509-15177559	HAEpiC	amniotic membrane:	n/a
22	chr20:15176830-15176880	NHBE	bronchial:	n/a
23	chr20:15177509-15177559	AG09319	gingival:	n/a
24	chr20:15176830-15176880	SK-N-MC	brain:	n/a
25	chr20:15176830-15176880	HPAEpiC	pulmonary alveolar:	n/a
26	chr20:15177509-15177559	BE2_C	brain:	n/a
27	chr20:15176830-15176880	Caco-2	colon:	n/a
28	chr20:15177509-15177559	LNCaP	prostate:	n/a
29	chr20:15176557-15176607	SK-N-MC	brain:	n/a
30	chr20:15176557-15176607	K562	blood:	n/a
31	chr20:15176830-15176880	SK-N-SH_RA	brain:	n/a
32	chr20:15176830-15176880	PFSK-1	brain:	n/a
33	chr20:15177509-15177559	CMK	blood:	n/a
34	chr20:15176830-15176880	ovcar-3	ovarian:	n/a
35	chr20:15176557-15176607	NHDF-neo	bronchial:	n/a
36	chr20:15177509-15177559	AG04449	skin:	fetal
37	chr20:15176557-15176607	T-47D	breast:	n/a
38	chr20:15176557-15176607	RPTEC	kidney:	n/a
39	chr20:15177509-15177559	HRPEpiC	eye:	n/a
40	chr20:15176830-15176880	H1-hESC	embryonic stem cell:	embryo
41	chr20:15176830-15176880	GM19239	blood:	n/a
42	chr20:15177509-15177559	HEK293	kidney:	embryo
43	chr20:15176830-15176880	Hepatocyte	liver:	n/a
44	chr20:15176830-15176880	PANC-1	pancreas:	n/a
45	chr20:15177509-15177559	ECC-1	luminal epithelium:	n/a
46	chr20:15176830-15176880	SAEC	small airway:	n/a
47	chr20:15176830-15176880	U87	brain:	n/a
48	chr20:15177509-15177559	GM12892	blood:	n/a
49	chr20:15176557-15176607	GM12878	blood:	n/a
50	chr20:15176830-15176880	NB4	blood:	n/a

(count:4 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
MACROD2	TF binding region
RNU6-1159P	TF binding region
RNU6-115P	TF binding region
MACROD2	CpG island
RNU6-1159P	CpG island
RNU6-115P	CpG island

Extended variants
information (count: 8001 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:8001 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374340990	chr20:14939617-14939618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141827017	chr20:14939620-14939621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16995184	chr20:14939688-14939689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370657932	chr20:14939763-14939764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563181851	chr20:14939807-14939808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530444593	chr20:14939808-14939809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548534123	chr20:14939819-14939820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146196384	chr20:14939834-14939835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200823251	chr20:14939836-14939837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182172552	chr20:14939839-14939840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561232985	chr20:14939862-14939863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61212887	chr20:14939887-14939888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187914218	chr20:14939944-14939945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192389073	chr20:14939965-14939966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7269414	chr20:14939973-14939974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569107392	chr20:14940016-14940017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2423874	chr20:14940062-14940063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111820078	chr20:14940063-14940064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554965387	chr20:14940111-14940112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143911400	chr20:14940182-14940183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375752647	chr20:14940191-14940192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540777510	chr20:14940207-14940208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10661526	chr20:14940217-14940218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111483751	chr20:14940228-14940229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577400382	chr20:14940277-14940278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113740389	chr20:14940294-14940295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532428434	chr20:14940301-14940302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563054448	chr20:14940309-14940310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184695744	chr20:14940338-14940339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116064544	chr20:14940359-14940360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367787666	chr20:14940360-14940361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145520334	chr20:14940361-14940362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57551354	chr20:14940382-14940383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546322596	chr20:14940406-14940407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571296856	chr20:14940407-14940408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532230574	chr20:14940411-14940412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111456110	chr20:14940504-14940505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141051873	chr20:14940524-14940525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536428826	chr20:14940534-14940535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77244270	chr20:14940580-14940581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189976849	chr20:14940676-14940677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7274822	chr20:14940687-14940688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372896313	chr20:14940699-14940700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552212030	chr20:14940700-14940701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566912268	chr20:14940734-14940735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6043019	chr20:14940740-14940741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534170284	chr20:14940784-14940785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568803624	chr20:14940848-14940849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558813120	chr20:14940866-14940867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577231348	chr20:14940870-14940871	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:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr20:14936000-14941200	Enhancers	Hela-S3	cervix
5	chr20:14936400-14940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:14936600-14944000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr20:14937000-14943600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:14937000-14943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr20:14937000-14943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr20:14937400-14940200	Weak transcription	HepG2	liver
11	chr20:14938200-14943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:14938200-14944000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr20:14938600-14941400	Enhancers	HMEC	breast
14	chr20:14939000-14940800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:14939000-14941200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:14939000-14941200	Enhancers	NHEK	skin
17	chr20:14939200-14941200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:14939400-14940400	Weak transcription	A549	lung
19	chr20:14940000-14941000	Enhancers	Esophagus	oesophagus
20	chr20:14940200-14940600	Enhancers	Lung	lung
21	chr20:14940200-14941000	Enhancers	HepG2	liver
22	chr20:14940400-14940600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr20:14940400-14941400	Enhancers	A549	lung
24	chr20:14940800-14943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:14941000-14943800	Weak transcription	HepG2	liver
26	chr20:14941200-14942600	Weak transcription	Hela-S3	cervix
27	chr20:14941200-14942800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:14941200-14943400	Weak transcription	NHEK	skin
29	chr20:14941200-14943600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:14941400-14942800	Weak transcription	A549	lung
31	chr20:14941400-14943400	Weak transcription	HMEC	breast
32	chr20:14942600-14945000	Enhancers	Hela-S3	cervix
33	chr20:14942800-14943000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:14942800-14944000	Enhancers	A549	lung
35	chr20:14943000-14943400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:14943200-14944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:14943400-14944000	Enhancers	HUVEC	blood vessel
38	chr20:14943400-14944000	Enhancers	NHEK	skin
39	chr20:14943400-14944400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:14943400-14944600	Enhancers	HMEC	breast
41	chr20:14943600-14944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:14943600-14944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr20:14943600-14944400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr20:14943600-14944400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr20:14943600-14944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr20:14943600-14944400	Enhancers	HSMMtube	muscle
47	chr20:14943600-14944600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:14943600-14944600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr20:14943800-14944200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr20:14943800-14944200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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