Variant report

Variant	nsv569509
Chromosome Location	chr15:54888537-54932716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:54909959-54910868	HepG2	liver:	n/a	n/a
2	BATF	chr15:54908894-54909106	GM12878	blood:	n/a	chr15:54909011-54909022
3	BHLHE40	chr15:54913156-54913250	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:54909020-54909028	GM12878	blood:	n/a	n/a
5	CEBPB	chr15:54910450-54910580	HepG2	liver:	n/a	n/a
6	CEBPB	chr15:54912045-54912305	HepG2	liver:	n/a	chr15:54912151-54912162 chr15:54912150-54912163
7	CEBPB	chr15:54910340-54910679	HepG2	liver:	n/a	n/a
8	CTCF	chr15:54902511-54902544	GM20000	blood:	n/a	n/a
9	CTCF	chr15:54898985-54899060	Lung_OC	lung:	n/a	n/a
10	CUX1	chr15:54914977-54915129	GM12878	blood:	n/a	n/a
11	E2F4	chr15:54908178-54908378	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr15:54910441-54910543	GM12878	blood:	n/a	n/a
13	EBF1	chr15:54897241-54897449	GM12878	blood:	n/a	chr15:54897370-54897381 chr15:54897371-54897380
14	EBF1	chr15:54906039-54906410	GM12878	blood:	n/a	chr15:54906222-54906233
15	EP300	chr15:54910277-54910629	HepG2	liver:	n/a	chr15:54910377-54910386
16	EP300	chr15:54911833-54911840	GM12878	blood:	n/a	n/a
17	EP300	chr15:54911380-54911684	HepG2	liver:	n/a	n/a
18	EP300	chr15:54908995-54909081	GM12878	blood:	n/a	n/a
19	EP300	chr15:54910321-54910772	HepG2	liver:	n/a	chr15:54910377-54910386
20	FAM48A	chr15:54922904-54923041	GM12878	blood:	n/a	n/a
21	FOSL2	chr15:54910297-54910610	HepG2	liver:	n/a	n/a
22	FOXA1	chr15:54911389-54911681	HepG2	liver:	n/a	n/a
23	FOXA1	chr15:54910179-54910681	HepG2	liver:	n/a	n/a
24	FOXA1	chr15:54919138-54919515	T-47D	breast:	n/a	n/a
25	FOXA1	chr15:54911276-54911742	HepG2	liver:	n/a	n/a
26	FOXA1	chr15:54910234-54910610	HepG2	liver:	n/a	n/a
27	FOXA1	chr15:54910261-54910644	HepG2	liver:	n/a	n/a
28	FOXA1	chr15:54910273-54910644	HepG2	liver:	n/a	n/a
29	FOXA1	chr15:54897809-54898103	T-47D	breast:	n/a	n/a
30	FOXA1	chr15:54919134-54919460	T-47D	breast:	n/a	n/a
31	FOXA2	chr15:54910264-54910615	HepG2	liver:	n/a	n/a
32	FOXA2	chr15:54911380-54911703	HepG2	liver:	n/a	n/a
33	GATA3	chr15:54919118-54919482	T-47D	breast:	n/a	n/a
34	GATA3	chr15:54919076-54919499	T-47D	breast:	n/a	n/a
35	GATA3	chr15:54900401-54900711	T-47D	breast:	n/a	n/a
36	GATA3	chr15:54897773-54898103	T-47D	breast:	n/a	chr15:54897906-54897915 chr15:54897909-54897918
37	HNF4G	chr15:54911396-54911576	HepG2	liver:	n/a	chr15:54911505-54911520
38	IRF1	chr15:54906940-54907013	K562	blood:	n/a	n/a
39	JUN	chr15:54910289-54910704	HepG2	liver:	n/a	n/a
40	JUND	chr15:54910297-54910718	HepG2	liver:	n/a	n/a
41	MAFF	chr15:54919748-54919920	HepG2	liver:	n/a	n/a
42	MAFK	chr15:54902064-54902250	HepG2	liver:	n/a	n/a
43	MAFK	chr15:54919727-54920011	HepG2	liver:	n/a	n/a
44	MAX	chr15:54897351-54897366	GM12878	blood:	n/a	n/a
45	MAZ	chr15:54906202-54906289	GM12878	blood:	n/a	n/a
46	MAZ	chr15:54909481-54909488	GM12878	blood:	n/a	n/a
47	MXI1	chr15:54908353-54908364	GM12878	blood:	n/a	n/a
48	MXI1	chr15:54896958-54896990	GM12878	blood:	n/a	n/a
49	NFIC	chr15:54910268-54910669	HepG2	liver:	n/a	n/a
50	POLR2A	chr15:54916340-54916780	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:54897418-54897468	PANC-1	pancreas:	n/a
2	chr15:54897418-54897468	BJ	skin:	n/a
3	chr15:54897418-54897468	GM12891	blood:	n/a
4	chr15:54897418-54897468	GM12878	blood:	n/a
5	chr15:54897418-54897468	NH-A	brain:	n/a
6	chr15:54897418-54897468	HRPEpiC	eye:	n/a
7	chr15:54897418-54897468	HCF	heart:	n/a
8	chr15:54897418-54897468	SK-N-SH	brain:	n/a
9	chr15:54897418-54897468	ECC-1	luminal epithelium:	n/a
10	chr15:54897418-54897468	SK-N-MC	brain:	n/a
11	chr15:54897418-54897468	HL-60	blood:	n/a
12	chr15:54897418-54897468	AG04450	lung:	fetal
13	chr15:54897418-54897468	HEEpiC	esophagus:	n/a
14	chr15:54897418-54897468	Hepatocyte	liver:	n/a
15	chr15:54897418-54897468	AoSMC	blood vessel:	n/a
16	chr15:54897418-54897468	CMK	blood:	n/a
17	chr15:54897418-54897468	RPTEC	kidney:	n/a
18	chr15:54897418-54897468	T-47D	breast:	n/a
19	chr15:54897418-54897468	ovcar-3	ovarian:	n/a
20	chr15:54897418-54897468	LNCaP	prostate:	n/a
21	chr15:54897418-54897468	HRCEpiC	kidney:	n/a
22	chr15:54897418-54897468	PFSK-1	brain:	n/a
23	chr15:54897418-54897468	H1-hESC	embryonic stem cell:	embryo
24	chr15:54897418-54897468	Caco-2	colon:	n/a
25	chr15:54897418-54897468	PrEC	prostate:	n/a
26	chr15:54897418-54897468	HMEC	breast:	n/a
27	chr15:54897418-54897468	U87	brain:	n/a
28	chr15:54897418-54897468	AG10803	skin:	n/a
29	chr15:54897418-54897468	AG09309	skin:	n/a
30	chr15:54897418-54897468	NHBE	bronchial:	n/a
31	chr15:54897418-54897468	HPAEpiC	pulmonary alveolar:	n/a
32	chr15:54897418-54897468	AG09319	gingival:	n/a
33	chr15:54897418-54897468	NHDF-neo	bronchial:	n/a
34	chr15:54897418-54897468	Hela-S3	cervix:	n/a
35	chr15:54897418-54897468	K562	blood:	n/a
36	chr15:54897418-54897468	ProgFib	skin:	n/a
37	chr15:54897418-54897468	GM19239	blood:	n/a
38	chr15:54897418-54897468	HUVEC	blood vessel:	n/a
39	chr15:54897418-54897468	HCT-116	colon:	n/a
40	chr15:54897418-54897468	MCF-7	breast:	n/a
41	chr15:54897418-54897468	A549	lung:	n/a
42	chr15:54897418-54897468	HAEpiC	amniotic membrane:	n/a
43	chr15:54897418-54897468	NB4	blood:	n/a
44	chr15:54897418-54897468	BE2_C	brain:	n/a
45	chr15:54897418-54897468	SAEC	small airway:	n/a
46	chr15:54897418-54897468	MCF10A-Er-Src	breast:	n/a
47	chr15:54897418-54897468	AG04449	skin:	fetal
48	chr15:54897418-54897468	HIPEpiC	eye:	n/a
49	chr15:54897418-54897468	SK-N-SH_RA	brain:	n/a
50	chr15:54897418-54897468	NT2-D1	testis:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:
2	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
3	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSL24D1-4	chr15:54902051-54903329	NONHSAT043976

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UNC13C	hsa-miR-128-3p	chr15:54919879-54919886
2	UNC13C	hsa-miR-128-3p	chr15:54919866-54919886

Variant related genes	Relation type
UNC13C	TF binding region
UNC13C	CpG island

Extended variants
information (count: 1644 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1644 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2414325	chr15:54888537-54888538	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116479537	chr15:54888538-54888539	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530901948	chr15:54888542-54888543	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148128317	chr15:54888553-54888554	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145041806	chr15:54888566-54888567	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143926225	chr15:54888612-54888613	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554518286	chr15:54888669-54888670	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567620939	chr15:54888676-54888677	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188266777	chr15:54888693-54888694	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79775646	chr15:54888702-54888703	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373390608	chr15:54888722-54888723	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576519954	chr15:54888746-54888747	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72740029	chr15:54888758-54888759	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181000568	chr15:54888797-54888798	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577778792	chr15:54888809-54888810	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74908675	chr15:54888825-54888826	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560019646	chr15:54888834-54888835	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6493692	chr15:54888851-54888852	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542258696	chr15:54888858-54888859	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373420143	chr15:54888866-54888867	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376521532	chr15:54888885-54888886	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2414326	chr15:54888931-54888932	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs147263295	chr15:54888943-54888944	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs118070431	chr15:54889070-54889071	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112888598	chr15:54889095-54889096	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527894287	chr15:54889099-54889100	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374357666	chr15:54889101-54889102	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568006070	chr15:54889137-54889138	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536637394	chr15:54889138-54889139	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556628108	chr15:54889148-54889149	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568208526	chr15:54889206-54889207	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569973946	chr15:54889207-54889208	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185608003	chr15:54889226-54889227	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540735504	chr15:54889240-54889241	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533630531	chr15:54889264-54889265	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577719788	chr15:54889265-54889266	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540087081	chr15:54889266-54889267	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553644759	chr15:54889296-54889297	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550500796	chr15:54889298-54889299	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140749426	chr15:54889315-54889316	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114361078	chr15:54889316-54889317	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562475037	chr15:54889326-54889327	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531222076	chr15:54889335-54889336	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190285410	chr15:54889343-54889344	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182458903	chr15:54889445-54889446	Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527884096	chr15:54889452-54889453	Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539390160	chr15:54889454-54889455	Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559383644	chr15:54889471-54889472	Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530443658	chr15:54889493-54889494	Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559013909	chr15:54889500-54889501	Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54887600-54892800	Strong transcription	Fetal Heart	heart
2	chr15:54889400-54889600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:54890400-54890800	Enhancers	Fetal Muscle Trunk	muscle
4	chr15:54892800-54894400	Weak transcription	Fetal Heart	heart
5	chr15:54893800-54894400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:54893800-54894600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:54893800-54895400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:54894000-54894200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr15:54894000-54894200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:54894000-54894400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:54894200-54894600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr15:54894400-54894600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:54894400-54895200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:54894400-54895200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:54894600-54896800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:54894600-54896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:54895200-54895400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:54895200-54895400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:54895400-54896600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:54895400-54897200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:54896000-54898600	Enhancers	Fetal Lung	lung
22	chr15:54896600-54897800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:54896600-54898000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr15:54896800-54897000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:54896800-54897000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:54896800-54897400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr15:54896800-54897600	Enhancers	Fetal Intestine Large	intestine
28	chr15:54896800-54897800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:54896800-54898400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:54896800-54899800	Weak transcription	Aorta	Aorta
31	chr15:54897000-54897800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:54897000-54897800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:54897000-54898000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr15:54897200-54897400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:54897200-54898200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr15:54897400-54897800	Enhancers	Fetal Stomach	stomach
37	chr15:54897800-54898000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:54897800-54898200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:54897800-54899000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:54898200-54899800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:54898600-54899800	Weak transcription	Fetal Lung	lung
42	chr15:54899000-54899200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:54899800-54900000	Enhancers	Aorta	Aorta
44	chr15:54899800-54900200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:54899800-54901600	Enhancers	Fetal Lung	lung
46	chr15:54900000-54920600	Weak transcription	Aorta	Aorta
47	chr15:54900200-54901200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr15:54901000-54902200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:54901200-54901400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr15:54901200-54902200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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