Variant report

Variant	nsv527730
Chromosome Location	chr15:74915888-74920532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr15:74918541-74918987	GM12878	blood:	n/a	n/a
2	BCL3	chr15:74918501-74919008	GM12878	blood:	n/a	n/a
3	BHLHE40	chr15:74919633-74919857	GM12878	blood:	n/a	n/a
4	CTCF	chr15:74915960-74916110	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr15:74915860-74916010	HEK293	kidney:	n/a	chr15:74915940-74915953
6	CTCF	chr15:74919697-74919743	Spleen_OC	spleen:	n/a	n/a
7	EBF1	chr15:74919528-74919875	GM12878	blood:	n/a	n/a
8	EBF1	chr15:74919513-74919882	GM12878	blood:	n/a	n/a
9	EBF1	chr15:74919480-74920013	GM12878	blood:	n/a	n/a
10	ELK1	chr15:74919574-74919614	GM12878	blood:	n/a	n/a
11	EP300	chr15:74919777-74919847	GM12878	blood:	n/a	n/a
12	EP300	chr15:74919599-74919769	GM12878	blood:	n/a	n/a
13	FOSL2	chr15:74918883-74919265	HepG2	liver:	n/a	n/a
14	MAX	chr15:74918086-74918459	K562	blood:	n/a	chr15:74918261-74918271 chr15:74918272-74918282
15	MAX	chr15:74918126-74918457	NB4	blood:	n/a	chr15:74918261-74918271 chr15:74918272-74918282
16	MAZ	chr15:74919639-74919882	GM12878	blood:	n/a	n/a
17	MTA3	chr15:74919504-74920173	GM12878	blood:	n/a	n/a
18	MXI1	chr15:74919602-74919932	GM12878	blood:	n/a	n/a
19	NFATC1	chr15:74918438-74919033	GM12878	blood:	n/a	n/a
20	NFATC1	chr15:74918541-74919075	GM12878	blood:	n/a	n/a
21	NFATC1	chr15:74919617-74920254	GM12878	blood:	n/a	n/a
22	PBX3	chr15:74918673-74918898	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:74918665-74919224	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:74916404-74916409	MCF-7	breast:	n/a	n/a
25	POLR2A	chr15:74916929-74917598	K562	blood:	n/a	n/a
26	POLR2A	chr15:74918561-74919242	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:74920289-74920840	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr15:74919318-74921355	GM12891	blood:	n/a	n/a
29	POLR2A	chr15:74919345-74919392	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:74919716-74920432	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr15:74918822-74919184	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr15:74916010-74916773	K562	blood:	n/a	n/a
33	POLR2A	chr15:74915596-74916646	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:74919878-74920006	ProgFib	skin:	n/a	n/a
35	POLR2A	chr15:74915846-74916541	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr15:74919498-74919923	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:74918070-74918160	A549	lung:	n/a	n/a
38	POLR2A	chr15:74918824-74918922	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr15:74916821-74916829	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:74917616-74925544	K562	blood:	n/a	n/a
41	POLR2A	chr15:74918519-74919213	GM12892	blood:	n/a	n/a
42	POLR2A	chr15:74919942-74920280	U87	brain:	n/a	n/a
43	POLR2A	chr15:74916784-74916798	K562	blood:	n/a	n/a
44	POLR2A	chr15:74916459-74916496	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr15:74918016-74919535	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:74916363-74916461	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr15:74919389-74924155	GM12892	blood:	n/a	n/a
48	POLR2A	chr15:74918326-74918385	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:74916135-74916413	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:74919380-74920297	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74915721..74919302-chr15:75074662..75077539,3	MCF-7	breast:

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000103653	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2068982	chr15:74915888-74915889	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189895318	chr15:74915906-74915907	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532593578	chr15:74915907-74915908	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547478938	chr15:74915923-74915924	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183225065	chr15:74915940-74915941	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536604087	chr15:74915987-74915988	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558614364	chr15:74916019-74916020	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548315432	chr15:74916174-74916175	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567518317	chr15:74916193-74916194	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529866235	chr15:74916211-74916212	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537734606	chr15:74916262-74916263	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116399713	chr15:74916313-74916314	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554626656	chr15:74916419-74916420	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368655437	chr15:74916494-74916495	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187338770	chr15:74916510-74916511	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192063229	chr15:74916578-74916579	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553862390	chr15:74916588-74916589	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572048620	chr15:74916590-74916591	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542579683	chr15:74916591-74916592	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554281723	chr15:74916688-74916689	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572877637	chr15:74916697-74916698	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188776279	chr15:74916698-74916699	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576020894	chr15:74916750-74916751	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374479731	chr15:74916784-74916785	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs576140350	chr15:74916785-74916786	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368932022	chr15:74916797-74916798	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565280571	chr15:74916817-74916818	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541151154	chr15:74916847-74916848	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs532531307	chr15:74916850-74916851	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370887879	chr15:74916851-74916852	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183572463	chr15:74916852-74916853	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs138175046	chr15:74916880-74916881	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188453055	chr15:74916925-74916926	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191534908	chr15:74916939-74916940	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569929100	chr15:74916987-74916988	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371930566	chr15:74917021-74917022	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550090014	chr15:74917073-74917074	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571574793	chr15:74917123-74917124	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371403765	chr15:74917134-74917135	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538789832	chr15:74917171-74917172	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149154451	chr15:74917178-74917179	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374700387	chr15:74917218-74917219	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374462029	chr15:74917273-74917274	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373788083	chr15:74917409-74917410	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79618637	chr15:74917413-74917414	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113590481	chr15:74917420-74917421	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs62005808	chr15:74917452-74917453	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543652724	chr15:74917488-74917489	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145056813	chr15:74917489-74917490	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563478829	chr15:74917491-74917492	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	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
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Autism	20531469	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74909000-74927000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:74910000-74917800	Strong transcription	Primary B cells from cord blood	blood
3	chr15:74910000-74931200	Strong transcription	NHLF	lung
4	chr15:74910000-74931600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:74910400-74925600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr15:74910400-74931800	Strong transcription	K562	blood
7	chr15:74910400-74933400	Strong transcription	Rectal Smooth Muscle	rectum
8	chr15:74910600-74936400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr15:74910800-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:74910800-74922600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:74910800-74933200	Strong transcription	Fetal Intestine Large	intestine
12	chr15:74910800-74933800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:74910800-74934400	Strong transcription	Thymus	Thymus
14	chr15:74911000-74918200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:74911000-74918600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:74911000-74927600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:74911000-74934200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:74911000-74934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:74911000-74938000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:74911200-74916000	Weak transcription	Psoas Muscle	Psoas
21	chr15:74911200-74926400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:74911400-74918600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:74911400-74929600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:74911400-74929800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:74911400-74934800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:74911400-74936800	Strong transcription	Dnd41	blood
27	chr15:74911400-74937400	Strong transcription	Primary T cells from cord blood	blood
28	chr15:74911600-74919400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:74911600-74920400	Strong transcription	Osteobl	bone
30	chr15:74911600-74921200	Strong transcription	Fetal Kidney	kidney
31	chr15:74911600-74921600	Strong transcription	HSMM	muscle
32	chr15:74911600-74921800	Strong transcription	HUVEC	blood vessel
33	chr15:74911600-74922600	Strong transcription	NHDF-Ad	bronchial
34	chr15:74911600-74925400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr15:74911600-74926400	Strong transcription	Aorta	Aorta
36	chr15:74911600-74927400	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr15:74911600-74928200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:74911600-74928200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:74911600-74933000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:74911600-74933800	Strong transcription	Fetal Lung	lung
41	chr15:74911800-74918400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr15:74911800-74923200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:74911800-74933200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:74911800-74934200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:74912000-74921800	Strong transcription	NH-A	brain
46	chr15:74912400-74921400	Strong transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:74913400-74918400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:74913600-74918400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr15:74913600-74918600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:74913600-74919400	Strong transcription	Rectal Mucosa Donor 31	rectum

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