Variant report

Variant	nsv526413
Chromosome Location	chr15:54876423-54904782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:54877809-54877948	GM12878	blood:	n/a	n/a
2	CHD1	chr15:54878696-54879050	GM12878	blood:	n/a	n/a
3	CHD1	chr15:54874915-54878001	GM12878	blood:	n/a	n/a
4	CHD1	chr15:54878209-54878291	GM12878	blood:	n/a	n/a
5	CHD2	chr15:54877231-54877562	GM12878	blood:	n/a	n/a
6	CTCF	chr15:54886443-54886556	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr15:54886447-54886588	GM19240	blood:	n/a	n/a
8	CTCF	chr15:54886420-54886570	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr15:54886420-54886570	GM12872	blood:	n/a	n/a
10	CTCF	chr15:54886460-54886610	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr15:54898985-54899060	Lung_OC	lung:	n/a	n/a
12	CTCF	chr15:54886433-54886565	LNCaP	prostate:	n/a	n/a
13	CTCF	chr15:54886493-54886560	MCF-7	breast:	n/a	n/a
14	CTCF	chr15:54886340-54886490	GM12866	blood:	n/a	n/a
15	CTCF	chr15:54886340-54886490	HCT-116	colon:	n/a	n/a
16	CTCF	chr15:54886460-54886610	K562	blood:	n/a	n/a
17	CTCF	chr15:54886415-54886571	HepG2	liver:	n/a	n/a
18	CTCF	chr15:54886375-54886648	HepG2	liver:	n/a	n/a
19	CTCF	chr15:54886444-54886601	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr15:54886459-54886579	HepG2	liver:	n/a	n/a
21	CTCF	chr15:54886440-54886590	A549	lung:	n/a	n/a
22	CTCF	chr15:54886476-54886587	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:54886435-54886582	A549	lung:	n/a	n/a
24	CTCF	chr15:54886589-54886611	GM19240	blood:	n/a	n/a
25	CTCF	chr15:54886520-54886670	GM12874	blood:	n/a	n/a
26	CTCF	chr15:54886340-54886490	GM12873	blood:	n/a	n/a
27	CTCF	chr15:54886460-54886610	GM12872	blood:	n/a	n/a
28	CTCF	chr15:54886320-54886470	RPTEC	kidney:	n/a	n/a
29	CTCF	chr15:54886480-54886630	HepG2	liver:	n/a	n/a
30	CTCF	chr15:54886520-54886670	GM12864	blood:	n/a	n/a
31	CTCF	chr15:54886520-54886531	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr15:54886480-54886630	BE2_C	brain:	n/a	n/a
33	CTCF	chr15:54886380-54886530	GM12871	blood:	n/a	n/a
34	CTCF	chr15:54886492-54886528	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr15:54886420-54886570	GM12873	blood:	n/a	n/a
36	CTCF	chr15:54886400-54886550	Caco-2	colon:	n/a	n/a
37	CTCF	chr15:54886440-54886590	HEK293	kidney:	n/a	n/a
38	CTCF	chr15:54886490-54886565	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr15:54886467-54886586	Gliobla	brain:	n/a	n/a
40	CTCF	chr15:54886444-54886580	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:54886510-54886518	GM12892	blood:	n/a	n/a
42	CTCF	chr15:54886360-54886510	GM12875	blood:	n/a	n/a
43	CTCF	chr15:54886411-54886565	K562	blood:	n/a	n/a
44	CTCF	chr15:54886420-54886570	GM12874	blood:	n/a	n/a
45	CTCF	chr15:54886460-54886610	GM06990	blood:	n/a	n/a
46	CTCF	chr15:54886455-54886568	K562	blood:	n/a	n/a
47	CTCF	chr15:54886480-54886630	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr15:54886460-54886610	HepG2	liver:	n/a	n/a
49	CTCF	chr15:54886560-54886710	GM12864	blood:	n/a	n/a
50	CTCF	chr15:54886441-54886570	LNCaP	prostate:	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	HRPEpiC	eye:	n/a
3	chr15:54897418-54897468	Hepatocyte	liver:	n/a
4	chr15:54897418-54897468	ovcar-3	ovarian:	n/a
5	chr15:54897418-54897468	SKMC	muscle:	n/a
6	chr15:54897418-54897468	NB4	blood:	n/a
7	chr15:54897418-54897468	HAEpiC	amniotic membrane:	n/a
8	chr15:54897418-54897468	K562	blood:	n/a
9	chr15:54897418-54897468	CMK	blood:	n/a
10	chr15:54897418-54897468	AG04450	lung:	fetal
11	chr15:54897418-54897468	T-47D	breast:	n/a
12	chr15:54897418-54897468	HUVEC	blood vessel:	n/a
13	chr15:54897418-54897468	ProgFib	skin:	n/a
14	chr15:54897418-54897468	NH-A	brain:	n/a
15	chr15:54897418-54897468	SK-N-SH_RA	brain:	n/a
16	chr15:54897418-54897468	SAEC	small airway:	n/a
17	chr15:54897418-54897468	U87	brain:	n/a
18	chr15:54897418-54897468	NT2-D1	testis:	n/a
19	chr15:54897418-54897468	PrEC	prostate:	n/a
20	chr15:54897418-54897468	AoSMC	blood vessel:	n/a
21	chr15:54897418-54897468	SK-N-SH	brain:	n/a
22	chr15:54897418-54897468	HEEpiC	esophagus:	n/a
23	chr15:54897418-54897468	HCT-116	colon:	n/a
24	chr15:54897418-54897468	MCF-7	breast:	n/a
25	chr15:54897418-54897468	HIPEpiC	eye:	n/a
26	chr15:54897418-54897468	GM19239	blood:	n/a
27	chr15:54897418-54897468	LNCaP	prostate:	n/a
28	chr15:54897418-54897468	BJ	skin:	n/a
29	chr15:54897418-54897468	NHBE	bronchial:	n/a
30	chr15:54897418-54897468	A549	lung:	n/a
31	chr15:54897418-54897468	AG04449	skin:	fetal
32	chr15:54897418-54897468	GM12892	blood:	n/a
33	chr15:54897418-54897468	PFSK-1	brain:	n/a
34	chr15:54897418-54897468	SK-N-MC	brain:	n/a
35	chr15:54897418-54897468	NHDF-neo	bronchial:	n/a
36	chr15:54897418-54897468	HMEC	breast:	n/a
37	chr15:54897418-54897468	AG09309	skin:	n/a
38	chr15:54897418-54897468	GM06990	blood:	n/a
39	chr15:54897418-54897468	HRCEpiC	kidney:	n/a
40	chr15:54897418-54897468	HepG2	liver:	n/a
41	chr15:54897418-54897468	H1-hESC	embryonic stem cell:	embryo
42	chr15:54897418-54897468	AG09319	gingival:	n/a
43	chr15:54897418-54897468	MCF10A-Er-Src	breast:	n/a
44	chr15:54897418-54897468	GM12878	blood:	n/a
45	chr15:54897418-54897468	HRE	kidney:	n/a
46	chr15:54897418-54897468	Jurkat	blood:	n/a
47	chr15:54897418-54897468	Hela-S3	cervix:	n/a
48	chr15:54897418-54897468	HEK293	kidney:	embryo
49	chr15:54897418-54897468	HCPEpiC	choroid plexus:	n/a
50	chr15:54897418-54897468	HCM	heart:	n/a

No data

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

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

No data

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

Extended variants
information (count: 1220 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35970001	chr15:54876423-54876424	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535091032	chr15:54876452-54876453	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531723827	chr15:54876479-54876480	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184876851	chr15:54876484-54876485	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570684160	chr15:54876536-54876537	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148426284	chr15:54876597-54876598	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577913560	chr15:54876609-54876610	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566697878	chr15:54876621-54876622	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535380677	chr15:54876622-54876623	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553971303	chr15:54876651-54876652	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145086845	chr15:54876658-54876659	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575262922	chr15:54876728-54876729	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537569039	chr15:54876745-54876746	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs199527780	chr15:54876756-54876757	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs557457649	chr15:54876791-54876792	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549588948	chr15:54876810-54876811	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12050637	chr15:54876815-54876816	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147140394	chr15:54876850-54876851	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554444300	chr15:54876855-54876856	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574255953	chr15:54876887-54876888	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376949435	chr15:54876930-54876931	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140265200	chr15:54876932-54876933	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376529634	chr15:54876933-54876934	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553750577	chr15:54876936-54876937	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545499151	chr15:54876942-54876943	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565416198	chr15:54876947-54876948	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145681601	chr15:54876984-54876985	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546479013	chr15:54877004-54877005	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572227658	chr15:54877015-54877016	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188909021	chr15:54877029-54877030	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529209040	chr15:54877046-54877047	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs117536077	chr15:54877063-54877064	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181659355	chr15:54877091-54877092	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537464520	chr15:54877114-54877115	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552062262	chr15:54877115-54877116	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185390105	chr15:54877124-54877125	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571012760	chr15:54877174-54877175	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189735848	chr15:54877182-54877183	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554110152	chr15:54877196-54877197	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574257835	chr15:54877205-54877206	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181332574	chr15:54877207-54877208	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs151112962	chr15:54877214-54877215	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs556836046	chr15:54877239-54877240	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs141060457	chr15:54877241-54877242	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545426902	chr15:54877274-54877275	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565377624	chr15:54877293-54877294	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527829781	chr15:54877327-54877328	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76851129	chr15:54877336-54877337	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116043510	chr15:54877380-54877381	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs367547004	chr15:54877391-54877392	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54870000-54879800	Weak transcription	Aorta	Aorta
2	chr15:54871200-54882400	Weak transcription	Fetal Lung	lung
3	chr15:54873800-54880800	Strong transcription	Fetal Heart	heart
4	chr15:54876000-54878400	Active TSS	GM12878-XiMat	blood
5	chr15:54876200-54876600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr15:54879800-54880000	ZNF genes & repeats	Aorta	Aorta
7	chr15:54880000-54880400	Weak transcription	Aorta	Aorta
8	chr15:54880800-54887600	Weak transcription	Fetal Heart	heart
9	chr15:54882400-54883000	ZNF genes & repeats	Fetal Lung	lung
10	chr15:54886600-54886800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:54887600-54892800	Strong transcription	Fetal Heart	heart
12	chr15:54889400-54889600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:54890400-54890800	Enhancers	Fetal Muscle Trunk	muscle
14	chr15:54892800-54894400	Weak transcription	Fetal Heart	heart
15	chr15:54893800-54894400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:54893800-54894600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:54893800-54895400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:54894000-54894200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr15:54894000-54894200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:54894000-54894400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:54894200-54894600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr15:54894400-54894600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:54894400-54895200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:54894400-54895200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:54894600-54896800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:54894600-54896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:54895200-54895400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:54895200-54895400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:54895400-54896600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:54895400-54897200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:54896000-54898600	Enhancers	Fetal Lung	lung
32	chr15:54896600-54897800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr15:54896600-54898000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:54896800-54897000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr15:54896800-54897000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:54896800-54897400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr15:54896800-54897600	Enhancers	Fetal Intestine Large	intestine
38	chr15:54896800-54897800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:54896800-54898400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:54896800-54899800	Weak transcription	Aorta	Aorta
41	chr15:54897000-54897800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr15:54897000-54897800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:54897000-54898000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr15:54897200-54897400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:54897200-54898200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr15:54897400-54897800	Enhancers	Fetal Stomach	stomach
47	chr15:54897800-54898000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:54897800-54898200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:54897800-54899000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:54898200-54899800	Weak transcription	Placenta Amnion	Placenta Amnion

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