Variant report

Variant	nsv569913
Chromosome Location	chr15:72261385-72302667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:72301633-72301833	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:72283644-72283708	K562	blood:	n/a	n/a
3	CEBPB	chr15:72273080-72273270	K562	blood:	n/a	n/a
4	CEBPB	chr15:72290617-72290786	A549	lung:	n/a	n/a
5	CEBPB	chr15:72294733-72294775	A549	lung:	n/a	n/a
6	CREB1	chr15:72267886-72268367	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr15:72301850-72301853	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr15:72282118-72282139	Fibrobl	skin:	n/a	n/a
9	CTCF	chr15:72280660-72280810	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:72276011-72276092	GM10248	blood:	n/a	n/a
11	CTCF	chr15:72267740-72267890	MCF-7	breast:	n/a	n/a
12	CTCF	chr15:72264565-72264600	ProgFib	skin:	n/a	n/a
13	CTCF	chr15:72269633-72269656	MCF-7	breast:	n/a	n/a
14	CTCF	chr15:72268300-72268570	GM12864	blood:	n/a	n/a
15	E2F4	chr15:72302052-72302191	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr15:72292012-72292035	GM12878	blood:	n/a	n/a
17	EP300	chr15:72301636-72301843	GM12878	blood:	n/a	n/a
18	EP300	chr15:72290001-72290430	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr15:72267550-72268252	T-47D	breast:	n/a	n/a
20	EP300	chr15:72264194-72264639	T-47D	breast:	n/a	n/a
21	EP300	chr15:72290001-72290535	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr15:72267434-72268255	T-47D	breast:	n/a	n/a
23	EP300	chr15:72267679-72268331	MCF-7	breast:	n/a	n/a
24	EP300	chr15:72262837-72262960	K562	blood:	n/a	n/a
25	ESR1	chr15:72267672-72268177	T-47D	breast:	n/a	n/a
26	ESR1	chr15:72261212-72261786	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597
27	ESR1	chr15:72267436-72268270	T-47D	breast:	n/a	n/a
28	ESR1	chr15:72267522-72268234	T-47D	breast:	n/a	n/a
29	ESR1	chr15:72261383-72261674	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597
30	ESR1	chr15:72261428-72261781	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597
31	ESR1	chr15:72261272-72261758	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597
32	FAM48A	chr15:72283339-72283384	GM12878	blood:	n/a	n/a
33	FOXA1	chr15:72264313-72264597	T-47D	breast:	n/a	n/a
34	FOXA1	chr15:72264350-72264659	T-47D	breast:	n/a	n/a
35	FOXA1	chr15:72267439-72268264	T-47D	breast:	n/a	n/a
36	FOXA1	chr15:72267900-72268265	T-47D	breast:	n/a	n/a
37	GATA2	chr15:72289965-72290264	HUVEC	blood vessel:	n/a	n/a
38	GATA3	chr15:72289818-72290547	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr15:72267386-72268300	T-47D	breast:	n/a	n/a
40	GATA3	chr15:72289815-72290532	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr15:72297138-72297622	SK-N-SH	brain:	n/a	chr15:72297319-72297329 chr15:72297322-72297331
42	GATA3	chr15:72290091-72290291	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr15:72267384-72268308	T-47D	breast:	n/a	n/a
44	GATA3	chr15:72300113-72300312	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr15:72265773-72266106	T-47D	breast:	n/a	n/a
46	GATA3	chr15:72297222-72297399	SH-SY5Y	brain:	n/a	chr15:72297319-72297329 chr15:72297322-72297331
47	GATA3	chr15:72267368-72268473	MCF-7	breast:	n/a	n/a
48	GATA3	chr15:72267530-72268131	MCF-7	breast:	n/a	n/a
49	GATA3	chr15:72264268-72264673	T-47D	breast:	n/a	n/a
50	GATA3	chr15:72267451-72268356	MCF-7	breast:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72262124..72264073-chr15:72266768..72269290,2	K562	blood:
2	chr15:72262124..72264016-chr15:72266000..72268268,2	K562	blood:
3	chr15:72282427..72284925-chr15:72286751..72289211,2	K562	blood:
4	chr15:72274005..72275804-chr15:72283955..72286549,2	MCF-7	breast:
5	chr15:72292779..72294305-chr15:72296375..72298824,2	K562	blood:
6	chr15:72287720..72291695-chr15:72296118..72297805,3	MCF-7	breast:
7	chr15:72262884..72265663-chr15:72272089..72274316,2	K562	blood:
8	chr15:72262124..72264073-chr15:72266768..72269290,2	K562	blood:
9	chr15:72262124..72264016-chr15:72266000..72268268,2	K562	blood:
10	chr15:72297045..72298608-chr15:72298736..72301156,2	MCF-7	breast:
11	chr15:72284044..72286331-chr15:72302500..72304124,2	K562	blood:
12	chr15:72296226..72298848-chr15:72307966..72310000,2	K562	blood:
13	chr15:72274005..72275804-chr15:72283955..72286549,2	MCF-7	breast:
14	chr15:72297045..72298608-chr15:72298736..72301156,2	MCF-7	breast:
15	chr15:72284044..72286331-chr15:72302500..72304124,2	K562	blood:
16	chr15:72249559..72254389-chr15:72257826..72261874,6	MCF-7	breast:
17	chr15:72292779..72294305-chr15:72296375..72298824,2	K562	blood:
18	chr15:72282427..72284925-chr15:72286751..72289211,2	K562	blood:
19	chr15:72287720..72291695-chr15:72296118..72297805,3	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 1392 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2957734	chr15:72261385-72261386	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558291479	chr15:72261389-72261390	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs576979867	chr15:72261421-72261422	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192588468	chr15:72261450-72261451	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs552972639	chr15:72261479-72261480	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs574713167	chr15:72261480-72261481	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs527705068	chr15:72261486-72261487	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs542236106	chr15:72261611-72261612	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541397976	chr15:72261622-72261623	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563721482	chr15:72261701-72261702	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs143546565	chr15:72261718-72261719	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs78128416	chr15:72261721-72261722	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565316952	chr15:72261746-72261747	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs564640474	chr15:72261778-72261779	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs184735117	chr15:72261800-72261801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547206621	chr15:72261817-72261818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562234218	chr15:72261867-72261868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529638937	chr15:72261895-72261896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2929530	chr15:72261947-72261948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569321730	chr15:72261950-72261951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149104601	chr15:72262001-72262002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551875754	chr15:72262111-72262112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186829063	chr15:72262121-72262122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534505892	chr15:72262161-72262162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553174063	chr15:72262164-72262165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574643503	chr15:72262248-72262249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143140203	chr15:72262288-72262289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148254010	chr15:72262292-72262293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575728165	chr15:72262305-72262306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191592495	chr15:72262333-72262334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564407359	chr15:72262379-72262380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573327994	chr15:72262409-72262410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550478337	chr15:72262423-72262424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540465805	chr15:72262425-72262426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562309597	chr15:72262433-72262434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529522156	chr15:72262471-72262472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570256489	chr15:72262568-72262569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550879856	chr15:72262660-72262661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532566820	chr15:72262696-72262697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367943479	chr15:72262697-72262698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115813258	chr15:72262710-72262711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372106388	chr15:72262872-72262873	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs576552168	chr15:72262908-72262909	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs375148256	chr15:72262921-72262922	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs530403784	chr15:72262925-72262926	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs551792637	chr15:72263014-72263015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369985057	chr15:72263023-72263024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570447293	chr15:72263026-72263027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534764075	chr15:72263063-72263064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116257848	chr15:72263071-72263072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
2	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
6	chr15:72225000-72305600	Weak transcription	Gastric	stomach
7	chr15:72225200-72265000	Weak transcription	Fetal Kidney	kidney
8	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:72227600-72265800	Weak transcription	HSMMtube	muscle
13	chr15:72227600-72281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:72227600-72281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:72227800-72281600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
17	chr15:72228200-72265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:72228200-72268200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:72228800-72261400	Weak transcription	Ovary	ovary
20	chr15:72228800-72268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr15:72228800-72279600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:72228800-72281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
24	chr15:72232800-72264800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:72233400-72261400	Weak transcription	GM12878-XiMat	blood
26	chr15:72233400-72267400	Weak transcription	HMEC	breast
27	chr15:72233400-72267800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:72233400-72268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:72240000-72268200	Weak transcription	Esophagus	oesophagus
30	chr15:72240200-72282200	Weak transcription	Aorta	Aorta
31	chr15:72241000-72261800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:72244200-72269400	Weak transcription	HSMM	muscle
33	chr15:72244200-72281800	Weak transcription	Brain Germinal Matrix	brain
34	chr15:72244400-72269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:72244600-72269400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:72244800-72281600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:72246400-72265800	Weak transcription	Lung	lung
39	chr15:72246600-72268000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr15:72246600-72293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:72246800-72267400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:72247800-72281600	Weak transcription	Liver	Liver
43	chr15:72248000-72262200	Weak transcription	Pancreas	Pancrea
44	chr15:72248000-72262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:72248200-72267000	Weak transcription	NHEK	skin
46	chr15:72248400-72262000	Weak transcription	NHDF-Ad	bronchial
47	chr15:72248600-72265800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:72250200-72262200	Weak transcription	Osteobl	bone
49	chr15:72250200-72267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:72250200-72281600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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