Variant report

Variant	nsv569910
Chromosome Location	chr15:72203517-72296328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:285)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:72212595-72212649	K562	blood:	n/a	n/a
2	ARID3A	chr15:72213921-72213933	K562	blood:	n/a	n/a
3	ARID3A	chr15:72283644-72283708	K562	blood:	n/a	n/a
4	ARID3A	chr15:72254936-72255089	HepG2	liver:	n/a	n/a
5	ATF2	chr15:72206368-72206921	GM12878	blood:	n/a	n/a
6	BACH1	chr15:72222151-72222156	K562	blood:	n/a	n/a
7	BATF	chr15:72206431-72206854	GM12878	blood:	n/a	chr15:72206656-72206667
8	BATF	chr15:72206435-72206822	GM12878	blood:	n/a	chr15:72206656-72206667
9	BCL11A	chr15:72206377-72206869	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:72229951-72230355	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:72232433-72232749	GM12878	blood:	n/a	chr15:72232503-72232512
12	BCL11A	chr15:72229896-72230301	GM12878	blood:	n/a	n/a
13	BCL11A	chr15:72206400-72206839	GM12878	blood:	n/a	n/a
14	BCL3	chr15:72206413-72206809	GM12878	blood:	n/a	n/a
15	BHLHE40	chr15:72232438-72232555	GM12878	blood:	n/a	n/a
16	BHLHE40	chr15:72230009-72230471	GM12878	blood:	n/a	n/a
17	CBX3	chr15:72223707-72223865	K562	blood:	n/a	n/a
18	CEBPB	chr15:72228611-72228922	A549	lung:	n/a	chr15:72228745-72228756
19	CEBPB	chr15:72243415-72243732	IMR90	lung:	n/a	chr15:72243539-72243551
20	CEBPB	chr15:72229819-72229998	HepG2	liver:	n/a	chr15:72229885-72229896
21	CEBPB	chr15:72247752-72248035	IMR90	lung:	n/a	n/a
22	CEBPB	chr15:72234477-72234640	HepG2	liver:	n/a	chr15:72234521-72234532
23	CEBPB	chr15:72228588-72228918	HepG2	liver:	n/a	chr15:72228745-72228756
24	CEBPB	chr15:72229773-72230036	IMR90	lung:	n/a	chr15:72229885-72229896
25	CEBPB	chr15:72294733-72294775	A549	lung:	n/a	n/a
26	CEBPB	chr15:72229831-72229991	A549	lung:	n/a	chr15:72229885-72229896
27	CEBPB	chr15:72273080-72273270	K562	blood:	n/a	n/a
28	CEBPB	chr15:72290617-72290786	A549	lung:	n/a	n/a
29	CREB1	chr15:72267886-72268367	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr15:72213308-72213341	GM20000	blood:	n/a	n/a
31	CTCF	chr15:72268300-72268570	GM12864	blood:	n/a	n/a
32	CTCF	chr15:72233690-72233741	GM12891	blood:	n/a	n/a
33	CTCF	chr15:72218574-72218639	Fibrobl	skin:	n/a	n/a
34	CTCF	chr15:72276011-72276092	GM10248	blood:	n/a	n/a
35	CTCF	chr15:72264565-72264600	ProgFib	skin:	n/a	n/a
36	CTCF	chr15:72280660-72280810	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:72282118-72282139	Fibrobl	skin:	n/a	n/a
38	CTCF	chr15:72267740-72267890	MCF-7	breast:	n/a	n/a
39	CTCF	chr15:72269633-72269656	MCF-7	breast:	n/a	n/a
40	CUX1	chr15:72229977-72230668	GM12878	blood:	n/a	n/a
41	CUX1	chr15:72232342-72232362	GM12878	blood:	n/a	n/a
42	E2F4	chr15:72221607-72221751	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr15:72236139-72236700	MCF10A-Er-Src	breast:	n/a	n/a
44	EBF1	chr15:72206533-72206945	GM12878	blood:	n/a	n/a
45	EBF1	chr15:72206458-72206945	GM12878	blood:	n/a	n/a
46	EBF1	chr15:72206577-72206859	GM12878	blood:	n/a	n/a
47	EBF1	chr15:72229883-72230530	GM12878	blood:	n/a	n/a
48	EBF1	chr15:72232393-72232670	GM12878	blood:	n/a	n/a
49	ELK1	chr15:72250854-72250859	K562	blood:	n/a	n/a
50	EP300	chr15:72267434-72268255	T-47D	breast:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72249559..72254389-chr15:72257826..72261874,6	MCF-7	breast:
2	chr15:72287720..72291695-chr15:72296118..72297805,3	MCF-7	breast:
3	chr15:72190232..72191910-chr15:72203994..72206448,2	MCF-7	breast:
4	chr15:72204090..72205988-chr15:72208798..72210918,2	K562	blood:
5	chr15:72287720..72291695-chr15:72296118..72297805,3	MCF-7	breast:
6	chr15:72229730..72230693-chr8:133827437..133828301,2	MCF-7	breast:
7	chr15:72292779..72294305-chr15:72296375..72298824,2	K562	blood:
8	chr15:72296226..72298848-chr15:72307966..72310000,2	K562	blood:
9	chr15:72204090..72205988-chr15:72208798..72210918,2	K562	blood:
10	chr15:72282427..72284925-chr15:72286751..72289211,2	K562	blood:
11	chr15:72282427..72284925-chr15:72286751..72289211,2	K562	blood:
12	chr15:72197435..72199145-chr15:72206196..72207927,2	K562	blood:
13	chr15:72262124..72264073-chr15:72266768..72269290,2	K562	blood:
14	chr15:72251993..72253607-chr15:72256657..72258901,2	K562	blood:
15	chr15:72262124..72264016-chr15:72266000..72268268,2	K562	blood:
16	chr15:72262124..72264073-chr15:72266768..72269290,2	K562	blood:
17	chr15:72225351..72227489-chr15:72231458..72233712,2	K562	blood:
18	chr15:72284044..72286331-chr15:72302500..72304124,2	K562	blood:
19	chr15:72274005..72275804-chr15:72283955..72286549,2	MCF-7	breast:
20	chr15:72249559..72254389-chr15:72257826..72261874,6	MCF-7	breast:
21	chr15:72225351..72227489-chr15:72231458..72233712,2	K562	blood:
22	chr15:72262124..72264016-chr15:72266000..72268268,2	K562	blood:
23	chr15:72274005..72275804-chr15:72283955..72286549,2	MCF-7	breast:
24	chr15:72262884..72265663-chr15:72272089..72274316,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SENP8-1	chr15:72286034-72286129	ENSG00000261632.1
2	lnc-SENP8-1	chr15:72291354-72291421	ENSG00000261632.1
3	lnc-SENP8-1	chr15:72264547-72264658	ENSG00000261632.1

No data

Variant related genes	Relation type
ENSG00000261632	TF binding region
MYO9A	TF binding region
ENSG00000261632	chromatin interactions
ENSG00000066933	chromatin interactions

Extended variants
information (count: 3147 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3147 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7175373	chr15:72203517-72203518	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368350824	chr15:72203531-72203532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183807291	chr15:72203629-72203630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370935005	chr15:72203661-72203662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537199301	chr15:72203712-72203713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138449289	chr15:72203715-72203716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556629336	chr15:72203786-72203787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142516844	chr15:72203798-72203799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531654912	chr15:72203809-72203810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146657485	chr15:72203855-72203856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571647520	chr15:72203869-72203870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538707658	chr15:72203902-72203903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72746327	chr15:72203929-72203930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs16956382	chr15:72203987-72203988	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536808264	chr15:72204000-72204001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188966377	chr15:72204042-72204043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576260338	chr15:72204053-72204054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537325526	chr15:72204061-72204062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558868170	chr15:72204069-72204070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149353192	chr15:72204079-72204080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541382328	chr15:72204153-72204154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544686596	chr15:72204224-72204225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560145974	chr15:72204226-72204227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368437598	chr15:72204250-72204251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559805710	chr15:72204258-72204259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572069000	chr15:72204267-72204268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542772953	chr15:72204275-72204276	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573052562	chr15:72204302-72204303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568906202	chr15:72204311-72204312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181662144	chr15:72204410-72204411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550097811	chr15:72204476-72204477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376462104	chr15:72204599-72204600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565220198	chr15:72204602-72204603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369235325	chr15:72204628-72204629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541663278	chr15:72204741-72204742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2723352	chr15:72204751-72204752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2723351	chr15:72204752-72204753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1287470	chr15:72204776-72204777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190744932	chr15:72204804-72204805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561963241	chr15:72204809-72204810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182029979	chr15:72204854-72204855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566127771	chr15:72204874-72204875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144654877	chr15:72204875-72204876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543965136	chr15:72204908-72204909	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148279435	chr15:72204928-72204929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186141815	chr15:72205023-72205024	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189742507	chr15:72205032-72205033	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563749727	chr15:72205073-72205074	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181292031	chr15:72205084-72205085	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577124129	chr15:72205109-72205110	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21215367	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:1248 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:72161000-72211000	Weak transcription	Small Intestine	intestine
3	chr15:72164000-72218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:72190800-72203800	Weak transcription	HMEC	breast
5	chr15:72190800-72206400	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:72191000-72222800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:72191200-72206000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:72191200-72206000	Weak transcription	Ovary	ovary
9	chr15:72191200-72229600	Weak transcription	HUVEC	blood vessel
10	chr15:72191600-72208000	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:72192400-72205000	Weak transcription	GM12878-XiMat	blood
12	chr15:72192400-72208600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:72192400-72216000	Weak transcription	Fetal Intestine Large	intestine
14	chr15:72192400-72218400	Weak transcription	Esophagus	oesophagus
15	chr15:72192400-72218400	Weak transcription	Lung	lung
16	chr15:72192400-72218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:72192400-72218800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:72192400-72222800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:72192400-72223400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:72192400-72223400	Weak transcription	NH-A	brain
21	chr15:72192400-72223600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:72192400-72224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:72192400-72241200	Weak transcription	Brain Angular Gyrus	brain
24	chr15:72192400-72249400	Weak transcription	NHLF	lung
25	chr15:72193800-72218400	Weak transcription	Aorta	Aorta
26	chr15:72193800-72224600	Weak transcription	Thymus	Thymus
27	chr15:72193800-72232000	Weak transcription	Fetal Heart	heart
28	chr15:72194000-72218400	Weak transcription	Pancreas	Pancrea
29	chr15:72194200-72206000	Weak transcription	Fetal Brain Female	brain
30	chr15:72194200-72206200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:72194200-72206800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:72194200-72210200	Weak transcription	Dnd41	blood
33	chr15:72194200-72218600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:72194200-72223400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:72194200-72223400	Weak transcription	HSMMtube	muscle
36	chr15:72194200-72224400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:72194600-72223000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:72195400-72222800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:72196200-72222200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:72196600-72217000	Weak transcription	Fetal Stomach	stomach
41	chr15:72196600-72223000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr15:72196800-72205400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr15:72196800-72206000	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:72196800-72206200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:72196800-72206200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:72196800-72206200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr15:72196800-72210600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr15:72196800-72218400	Weak transcription	Left Ventricle	heart
49	chr15:72196800-72221400	Weak transcription	Brain Germinal Matrix	brain
50	chr15:72197200-72206000	Weak transcription	Primary T cells from cord blood	blood

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