Variant report

Variant	nsv904184
Chromosome Location	chr15:45248787-45314764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:465)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45296105-45296229	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:45271890-45272170	HepG2	liver:	n/a	n/a
3	ATF2	chr15:45295871-45296253	GM12878	blood:	n/a	n/a
4	ATF2	chr15:45295919-45296257	GM12878	blood:	n/a	n/a
5	BACH1	chr15:45314714-45315077	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr15:45272154-45272541	GM12878	blood:	n/a	chr15:45272467-45272476
7	BATF	chr15:45279851-45280251	GM12878	blood:	n/a	n/a
8	BATF	chr15:45296662-45297296	GM12878	blood:	n/a	n/a
9	BATF	chr15:45296779-45297038	GM12878	blood:	n/a	n/a
10	BATF	chr15:45279994-45280199	GM12878	blood:	n/a	n/a
11	BATF	chr15:45260122-45260297	GM12878	blood:	n/a	n/a
12	BATF	chr15:45295818-45296500	GM12878	blood:	n/a	n/a
13	BATF	chr15:45272208-45272505	GM12878	blood:	n/a	chr15:45272467-45272476
14	BCL11A	chr15:45296724-45297267	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:45272182-45272561	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:45279928-45280266	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:45295798-45296464	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:45296208-45296417	GM12878	blood:	n/a	n/a
19	BCL11A	chr15:45272174-45272394	GM12878	blood:	n/a	n/a
20	BCL11A	chr15:45296801-45297056	GM12878	blood:	n/a	n/a
21	BCLAF1	chr15:45295867-45296413	GM12878	blood:	n/a	n/a
22	BHLHE40	chr15:45314704-45316298	K562	blood:	n/a	n/a
23	BHLHE40	chr15:45296002-45296323	GM12878	blood:	n/a	n/a
24	BHLHE40	chr15:45296066-45296175	HepG2	liver:	n/a	n/a
25	BHLHE40	chr15:45314733-45314907	GM12878	blood:	n/a	n/a
26	BRCA1	chr15:45313657-45314137	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr15:45314482-45315055	K562	blood:	n/a	n/a
28	CBX3	chr15:45248617-45248975	K562	blood:	n/a	n/a
29	CEBPB	chr15:45295774-45296465	GM12878	blood:	n/a	n/a
30	CEBPB	chr15:45271889-45272311	HepG2	liver:	n/a	n/a
31	CEBPB	chr15:45313553-45314049	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr15:45268613-45268822	K562	blood:	n/a	n/a
33	CEBPB	chr15:45296384-45296576	HepG2	liver:	n/a	n/a
34	CEBPB	chr15:45271868-45272227	HepG2	liver:	n/a	n/a
35	CEBPB	chr15:45271916-45272102	HepG2	liver:	n/a	n/a
36	CEBPB	chr15:45272203-45272387	K562	blood:	n/a	n/a
37	CEBPB	chr15:45271798-45272173	HepG2	liver:	n/a	n/a
38	CEBPB	chr15:45272116-45272339	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr15:45271876-45272188	HepG2	liver:	n/a	n/a
40	CHD2	chr15:45313597-45314037	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr15:45314625-45315910	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr15:45314694-45314896	K562	blood:	n/a	n/a
43	CTCF	chr15:45281160-45281310	HEK293	kidney:	n/a	chr15:45281211-45281229
44	CTCF	chr15:45260099-45260353	GM10266	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
45	CTCF	chr15:45281080-45281230	HCT-116	colon:	n/a	chr15:45281211-45281229
46	CTCF	chr15:45278959-45279070	K562	blood:	n/a	n/a
47	CTCF	chr15:45314740-45314890	HMF	breast:	n/a	n/a
48	CTCF	chr15:45268783-45268866	ProgFib	skin:	n/a	n/a
49	CTCF	chr15:45281180-45281251	Gliobla	brain:	n/a	chr15:45281211-45281229
50	CTCF	chr15:45281126-45281309	K562	blood:	n/a	chr15:45281211-45281229

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45312560-45312610	HCM	heart:	n/a
2	chr15:45248878-45248928	T-47D	breast:	n/a
3	chr15:45248806-45248856	K562	blood:	n/a
4	chr15:45248744-45248794	BJ	skin:	n/a
5	chr15:45248932-45248982	Jurkat	blood:	n/a
6	chr15:45312560-45312610	GM12892	blood:	n/a
7	chr15:45248932-45248982	SAEC	small airway:	n/a
8	chr15:45248806-45248856	GM12878	blood:	n/a
9	chr15:45248806-45248856	GM06990	blood:	n/a
10	chr15:45248932-45248982	T-47D	breast:	n/a
11	chr15:45248806-45248856	HMEC	breast:	n/a
12	chr15:45248932-45248982	SK-N-SH	brain:	n/a
13	chr15:45248806-45248856	SK-N-MC	brain:	n/a
14	chr15:45312560-45312610	SK-N-MC	brain:	n/a
15	chr15:45248744-45248794	SKMC	muscle:	n/a
16	chr15:45248878-45248928	Hela-S3	cervix:	n/a
17	chr15:45248806-45248856	HUVEC	blood vessel:	n/a
18	chr15:45248806-45248856	BJ	skin:	n/a
19	chr15:45248806-45248856	HIPEpiC	eye:	n/a
20	chr15:45248806-45248856	HCPEpiC	choroid plexus:	n/a
21	chr15:45312560-45312610	HepG2	liver:	n/a
22	chr15:45248744-45248794	GM12892	blood:	n/a
23	chr15:45248878-45248928	U87	brain:	n/a
24	chr15:45248806-45248856	HPAEpiC	pulmonary alveolar:	n/a
25	chr15:45312560-45312610	A549	lung:	n/a
26	chr15:45312560-45312610	HPAEpiC	pulmonary alveolar:	n/a
27	chr15:45248806-45248856	IMR90	lung:	fetal
28	chr15:45312560-45312610	RPTEC	kidney:	n/a
29	chr15:45248878-45248928	GM06990	blood:	n/a
30	chr15:45248878-45248928	AG04449	skin:	fetal
31	chr15:45248932-45248982	AG09309	skin:	n/a
32	chr15:45248744-45248794	HRCEpiC	kidney:	n/a
33	chr15:45248744-45248794	ProgFib	skin:	n/a
34	chr15:45312560-45312610	HMEC	breast:	n/a
35	chr15:45248744-45248794	Jurkat	blood:	n/a
36	chr15:45248744-45248794	NB4	blood:	n/a
37	chr15:45248932-45248982	K562	blood:	n/a
38	chr15:45248932-45248982	A549	lung:	n/a
39	chr15:45248744-45248794	HCPEpiC	choroid plexus:	n/a
40	chr15:45312560-45312610	BJ	skin:	n/a
41	chr15:45312560-45312610	NH-A	brain:	n/a
42	chr15:45248932-45248982	HPAEpiC	pulmonary alveolar:	n/a
43	chr15:45248932-45248982	HCM	heart:	n/a
44	chr15:45248878-45248928	SKMC	muscle:	n/a
45	chr15:45248744-45248794	AoSMC	blood vessel:	n/a
46	chr15:45248932-45248982	HUVEC	blood vessel:	n/a
47	chr15:45312560-45312610	GM12878	blood:	n/a
48	chr15:45248878-45248928	AG10803	skin:	n/a
49	chr15:45248878-45248928	HCPEpiC	choroid plexus:	n/a
50	chr15:45248744-45248794	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45264164..45266093-chr15:45270183..45271983,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUOX2-4	chr15:45262233-45263376	NONHSAT042205

No data

Variant related genes	Relation type
ENSG00000259304	TF binding region
RNU6-966P	TF binding region
C15orf43	TF binding region
SORD	TF binding region
RNU1-78P	TF binding region
RNU6-1332P	TF binding region
ENSG00000259304	CpG island
RNU6-966P	CpG island
C15orf43	CpG island
SORD	CpG island
RNU1-78P	CpG island
RNU6-1332P	CpG island
ENSG00000252288	chromatin interactions

Extended variants
information (count: 1178 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1178 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55743607	chr15:45248787-45248788	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs187802316	chr15:45248815-45248816	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs372649689	chr15:45248908-45248909	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs200283061	chr15:45248910-45248911	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs149180658	chr15:45248925-45248926	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs200832886	chr15:45248934-45248935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558759052	chr15:45248937-45248938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143499495	chr15:45248947-45248948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538168254	chr15:45248952-45248953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369672721	chr15:45248953-45248954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373504579	chr15:45248996-45248997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184690028	chr15:45249003-45249004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199691492	chr15:45249012-45249013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189488147	chr15:45249037-45249038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369429553	chr15:45249042-45249043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181905453	chr15:45249051-45249052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201597496	chr15:45249064-45249065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375647672	chr15:45249077-45249078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371121909	chr15:45249103-45249104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565171422	chr15:45249116-45249117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11638723	chr15:45249121-45249122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551305197	chr15:45249122-45249123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111439793	chr15:45249128-45249129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370808813	chr15:45249158-45249159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530116165	chr15:45249164-45249165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147999869	chr15:45249169-45249170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143432397	chr15:45249171-45249172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559971328	chr15:45249181-45249182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546634291	chr15:45249193-45249194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375025495	chr15:45249197-45249198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544439356	chr15:45250002-45250003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148907401	chr15:45250044-45250045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546422784	chr15:45250150-45250151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567903053	chr15:45250163-45250164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112868513	chr15:45250197-45250198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112543823	chr15:45250200-45250201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530304263	chr15:45250207-45250208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186502018	chr15:45250238-45250239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112591081	chr15:45250242-45250243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200739765	chr15:45250270-45250271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148114010	chr15:45250305-45250306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532545745	chr15:45250350-45250351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552743933	chr15:45250352-45250353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569329758	chr15:45250393-45250394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113343812	chr15:45250402-45250403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548052897	chr15:45250403-45250404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568359631	chr15:45250404-45250405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190956949	chr15:45250424-45250425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563440494	chr15:45250468-45250469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550604273	chr15:45250475-45250476	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45248800-45249200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:45248800-45249200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:45250000-45250400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr15:45250200-45250600	Enhancers	Liver	Liver
5	chr15:45267400-45268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:45267600-45268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45269600-45270800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr15:45270000-45270600	Enhancers	Hela-S3	cervix
9	chr15:45270200-45271600	Enhancers	HepG2	liver
10	chr15:45270600-45271600	Weak transcription	Hela-S3	cervix
11	chr15:45271400-45271800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:45271400-45272400	Enhancers	Liver	Liver
13	chr15:45271600-45271800	Flanking Active TSS	HepG2	liver
14	chr15:45271600-45272600	Enhancers	Hela-S3	cervix
15	chr15:45271800-45272200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:45271800-45272200	Active TSS	HepG2	liver
17	chr15:45272000-45272400	Active TSS	Duodenum Mucosa	Duodenum
18	chr15:45272200-45272400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:45272200-45272400	Flanking Active TSS	HepG2	liver
20	chr15:45272400-45273400	Enhancers	HepG2	liver
21	chr15:45272400-45274400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:45273400-45274400	Weak transcription	HepG2	liver
23	chr15:45274400-45274600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:45274400-45274800	Enhancers	HepG2	liver
25	chr15:45274400-45275200	Enhancers	Stomach Mucosa	stomach
26	chr15:45274600-45275000	Enhancers	Gastric	stomach
27	chr15:45274800-45283200	Weak transcription	HepG2	liver
28	chr15:45275000-45275400	Enhancers	Fetal Intestine Large	intestine
29	chr15:45276600-45277000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:45278200-45278600	Weak transcription	Liver	Liver
31	chr15:45278400-45278800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:45278600-45280000	Enhancers	Liver	Liver
33	chr15:45280000-45281000	Weak transcription	Liver	Liver
34	chr15:45281000-45281200	Enhancers	Liver	Liver
35	chr15:45283200-45283800	Enhancers	HepG2	liver
36	chr15:45292600-45294600	Enhancers	HepG2	liver
37	chr15:45292800-45297200	Enhancers	Liver	Liver
38	chr15:45293000-45293200	Enhancers	Fetal Intestine Large	intestine
39	chr15:45293000-45293200	Enhancers	Fetal Intestine Small	intestine
40	chr15:45293200-45296000	Weak transcription	Fetal Intestine Large	intestine
41	chr15:45293600-45293800	Enhancers	Stomach Mucosa	stomach
42	chr15:45293800-45294400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:45294200-45296400	Enhancers	Brain Anterior Caudate	brain
44	chr15:45294200-45296400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:45294400-45296200	Enhancers	Brain Substantia Nigra	brain
46	chr15:45294600-45294800	Enhancers	Brain Hippocampus Middle	brain
47	chr15:45294600-45295000	Weak transcription	HepG2	liver
48	chr15:45294800-45295400	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:45294800-45296000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:45294800-45296200	Enhancers	Brain Angular Gyrus	brain

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