Variant report

Variant	nsv1057548
Chromosome Location	chr20:14910001-15172302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1859)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1859 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

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	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:14971646-14973208	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	chr20:14959886-14961038	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:14936639-14937073	HepG2	liver:	n/a	n/a
9	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
10	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
11	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
12	ATF3	chr20:14965454-14966225	A549	lung:	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	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr20:14931782-14932075	GM12878	blood:	n/a	n/a
18	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
19	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
20	BATF	chr20:15142631-15143004	GM12878	blood:	n/a	n/a
21	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
22	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
23	BCL3	chr20:14965529-14966338	A549	lung:	n/a	chr20:14966177-14966184
24	BCL3	chr20:14966427-14967324	A549	lung:	n/a	n/a
25	BCL3	chr20:14966411-14967352	A549	lung:	n/a	n/a
26	BCLAF1	chr20:15142637-15143439	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
28	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
29	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
30	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
31	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
32	BRCA1	chr20:14943807-14944695	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr20:14936483-14937509	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
36	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
37	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
38	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
39	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
40	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
42	CEBPB	chr20:14940028-14940687	A549	lung:	n/a	n/a
43	CEBPB	chr20:15127824-15128039	A549	lung:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
44	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
45	CEBPB	chr20:15151692-15151964	A549	lung:	n/a	chr20:15151830-15151841
46	CEBPB	chr20:15150774-15151075	HepG2	liver:	n/a	chr20:15150914-15150925
47	CEBPB	chr20:15146524-15146700	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:15040911-15041602	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
49	CEBPB	chr20:14966892-14967224	HepG2	liver:	n/a	chr20:14967070-14967081
50	CEBPB	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14913183..14915031-chr20:14915260..14917096,2	MCF-7	breast:
2	chr20:14050662..14052329-chr20:14946506..14948938,2	MCF-7	breast:
3	chr20:14314384..14315320-chr20:14929469..14930347,2	MCF-7	breast:
4	chr20:14925222..14927929-chr20:14930721..14932848,2	MCF-7	breast:
5	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:
6	chr20:14925222..14927929-chr20:14930721..14932848,2	MCF-7	breast:
7	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
8	chr20:14845184..14847390-chr20:14926741..14929314,2	MCF-7	breast:
9	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
10	chr20:14856302..14859235-chr20:14930877..14933226,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-1	chr20:14910021-14910154	NONHSAT078722
2	lnc-FLRT3-1	chr20:14910021-14910164	NR_037841
3	lnc-FLRT3-1	chr20:14910021-14910142	NONHSAT078721
4	lnc-FLRT3-1	chr20:14910021-14910164	NR_072988
5	lnc-FLRT3-2	chr20:14915576-14915720	ENSG00000237832.1
6	lnc-FLRT3-1	chr20:14910021-14910132	ENSG00000235914.1
7	lnc-FLRT3-1	chr20:14910021-14910161	ENSG00000235914.1
8	lnc-FLRT3-2	chr20:14914489-14914588	ENSG00000237832.1
9	lnc-FLRT3-2	chr20:14915884-14916009	ENSG00000237832.1
10	lnc-FLRT3-1	chr20:14910021-14910164	NR_110318

No data

Variant related genes	Relation type
ENSG00000237832	TF binding region
RNU6-1159P	TF binding region
RNU6-115P	TF binding region
MACROD2-AS1	TF binding region
ENSG00000237832	chromatin interactions

Extended variants
information (count: 8432 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:8432 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114646280	chr20:14910026-14910027	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551618675	chr20:14910077-14910078	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560359477	chr20:14910112-14910113	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs149845153	chr20:14910121-14910122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs112237574	chr20:14910132-14910133	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs146315585	chr20:14910142-14910143	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs568180044	chr20:14910166-14910167	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535178783	chr20:14910200-14910201	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553909613	chr20:14910219-14910220	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554028369	chr20:14910222-14910223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs6034064	chr20:14910246-14910247	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs353142	chr20:14910258-14910259	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558035264	chr20:14910310-14910311	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576250607	chr20:14910347-14910348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543836720	chr20:14910351-14910352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs76442600	chr20:14910369-14910370	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574103346	chr20:14910377-14910378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs541093710	chr20:14910416-14910417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559531332	chr20:14910431-14910432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573647418	chr20:14910439-14910440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573737663	chr20:14910440-14910441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144306725	chr20:14910451-14910452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34639577	chr20:14910452-14910453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564050756	chr20:14910535-14910536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34541394	chr20:14910539-14910540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs610711	chr20:14910540-14910541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561495572	chr20:14910558-14910559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7274817	chr20:14910578-14910579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547471670	chr20:14910582-14910583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs353143	chr20:14910589-14910590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377664545	chr20:14910609-14910610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6042999	chr20:14910634-14910635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6135313	chr20:14910665-14910666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188617725	chr20:14910672-14910673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536920939	chr20:14910693-14910694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530730354	chr20:14910732-14910733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6043000	chr20:14910740-14910741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6043001	chr20:14910751-14910752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191480765	chr20:14910764-14910765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6043002	chr20:14910786-14910787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183773747	chr20:14910802-14910803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372143729	chr20:14910808-14910809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61532850	chr20:14910820-14910821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201128016	chr20:14910821-14910822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62202785	chr20:14910823-14910824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545230495	chr20:14910886-14910887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188107988	chr20:14910895-14910896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542848513	chr20:14910945-14910946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6135314	chr20:14911003-14911004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs80055301	chr20:14911025-14911026	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:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14905800-14931800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14912400-14912600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:14912600-14914600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:14914600-14915200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:14915200-14936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:14915600-14916400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:14916000-14916400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:14916200-14917000	Enhancers	A549	lung
9	chr20:14916600-14917000	Enhancers	HepG2	liver
10	chr20:14920000-14920400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr20:14920400-14923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr20:14920800-14921000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr20:14921000-14924800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:14923200-14923400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:14923200-14923400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:14923200-14923600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:14923200-14923800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:14923200-14924000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:14923200-14924000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:14923200-14924000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:14923200-14924400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr20:14923200-14924600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:14923400-14923800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr20:14923400-14923800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr20:14923400-14927400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr20:14923600-14924000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr20:14923600-14924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr20:14923600-14928000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr20:14923800-14924600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr20:14923800-14927800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr20:14924000-14927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:14924000-14927800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr20:14924000-14928000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr20:14924000-14928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr20:14924400-14928000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr20:14924600-14928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr20:14924800-14925400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr20:14925400-14927800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr20:14927400-14928400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:14927400-14928800	Enhancers	Fetal Heart	heart
41	chr20:14927400-14929000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:14927600-14928000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:14927600-14929400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr20:14927600-14929600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr20:14927800-14928400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr20:14927800-14929000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr20:14927800-14929200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr20:14927800-14929400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr20:14927800-14929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr20:14927800-14929600	Enhancers	HUES6 Cell Line	embryonic stem cell

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