Variant report

Variant	nsv977708
Chromosome Location	chr15:45124523-45134834
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	ARID3A	chr15:45125283-45125468	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:45128282-45128791	HepG2	liver:	n/a	n/a
3	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
4	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
6	BHLHE40	chr15:45128329-45128658	HepG2	liver:	n/a	chr15:45128479-45128495
7	CEBPB	chr15:45124595-45124633	Hela-S3	cervix:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
8	CEBPB	chr15:45128277-45128615	HepG2	liver:	n/a	chr15:45128364-45128376
9	CEBPB	chr15:45124457-45124788	HepG2	liver:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
10	CEBPB	chr15:45128288-45128596	HepG2	liver:	n/a	chr15:45128364-45128376
11	CEBPB	chr15:45128335-45128451	HepG2	liver:	n/a	chr15:45128364-45128376
12	CEBPB	chr15:45125287-45125585	HepG2	liver:	n/a	n/a
13	CEBPB	chr15:45124470-45124753	K562	blood:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
14	CEBPB	chr15:45125369-45125612	HepG2	liver:	n/a	n/a
15	CHD2	chr15:45128477-45128490	HepG2	liver:	n/a	n/a
16	CTCF	chr15:45126560-45126710	GM12874	blood:	n/a	n/a
17	CTCF	chr15:45126500-45126650	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr15:45126620-45126770	HEK293	kidney:	n/a	n/a
19	CTCF	chr15:45126620-45126770	HepG2	liver:	n/a	n/a
20	CTCF	chr15:45126600-45126750	BE2_C	brain:	n/a	n/a
21	CTCF	chr15:45131406-45131421	GM13977	blood:	n/a	n/a
22	CTCF	chr15:45131274-45131456	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr15:45131350-45131413	GM10248	blood:	n/a	n/a
24	CTCF	chr15:45131339-45131345	GM10248	blood:	n/a	n/a
25	CTCF	chr15:45126660-45126810	HRE	kidney:	n/a	n/a
26	CTCF	chr15:45126480-45126630	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr15:45126520-45126670	GM12867	blood:	n/a	n/a
28	CTCF	chr15:45130081-45130183	GM10248	blood:	n/a	n/a
29	CTCF	chr15:45126600-45126750	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr15:45131303-45131402	Lung_OC	lung:	n/a	n/a
31	CTCF	chr15:45126620-45126770	GM12874	blood:	n/a	n/a
32	CTCF	chr15:45131360-45131510	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr15:45126617-45126734	K562	blood:	n/a	n/a
34	CTCF	chr15:45130247-45130298	GM10248	blood:	n/a	n/a
35	CTCF	chr15:45126560-45126710	GM12872	blood:	n/a	n/a
36	CTCF	chr15:45126580-45126730	GM12864	blood:	n/a	n/a
37	CTCF	chr15:45126629-45126657	K562	blood:	n/a	n/a
38	CTCF	chr15:45126640-45126790	GM12871	blood:	n/a	n/a
39	CTCF	chr15:45134307-45134333	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr15:45126500-45126650	GM12875	blood:	n/a	n/a
41	CTCF	chr15:45131340-45131490	NHEK	skin:	n/a	n/a
42	CTCF	chr15:45126580-45126730	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr15:45131360-45131510	HRE	kidney:	n/a	n/a
44	CTCF	chr15:45126500-45126650	K562	blood:	n/a	n/a
45	CTCF	chr15:45126600-45126750	GM12872	blood:	n/a	n/a
46	CTCF	chr15:45131280-45131430	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr15:45131340-45131490	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr15:45126500-45126650	NB4	blood:	n/a	n/a
49	CTCFL	chr15:45126588-45126703	K562	blood:	n/a	n/a
50	EBF1	chr15:45131202-45131491	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000259479	TF binding region
ENSG00000238845	TF binding region

Extended variants
information (count: 489 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528641220	chr15:45124533-45124534	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549442797	chr15:45124564-45124565	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545691913	chr15:45124579-45124580	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567619110	chr15:45124582-45124583	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368100464	chr15:45124657-45124658	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371355651	chr15:45124661-45124662	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1720708	chr15:45124670-45124671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550601774	chr15:45124725-45124726	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567300111	chr15:45124740-45124741	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530236312	chr15:45124772-45124773	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535523522	chr15:45124785-45124786	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs372352596	chr15:45124786-45124787	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555720729	chr15:45124829-45124830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142384854	chr15:45124842-45124843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566669996	chr15:45124852-45124853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538409709	chr15:45124884-45124885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368529285	chr15:45124885-45124886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569216841	chr15:45124974-45124975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8025273	chr15:45124997-45124998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146743785	chr15:45125049-45125050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554630530	chr15:45125051-45125052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56164140	chr15:45125161-45125162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533900930	chr15:45125173-45125174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186194773	chr15:45125216-45125217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573387272	chr15:45125220-45125221	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545323751	chr15:45125230-45125231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs76005722	chr15:45125345-45125346	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs570880040	chr15:45125360-45125361	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs575562028	chr15:45125382-45125383	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs191076043	chr15:45125393-45125394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs147152102	chr15:45125408-45125409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564362460	chr15:45125476-45125477	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs181514989	chr15:45125519-45125520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs560964000	chr15:45125550-45125551	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs145775970	chr15:45125555-45125556	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376983250	chr15:45125613-45125614	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs148951163	chr15:45125637-45125638	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs560430073	chr15:45125692-45125693	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs532632240	chr15:45125731-45125732	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552438524	chr15:45125736-45125737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569049013	chr15:45125737-45125738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538157982	chr15:45125751-45125752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35580980	chr15:45125755-45125756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538368176	chr15:45125762-45125763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147053371	chr15:45125782-45125783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10438305	chr15:45125802-45125803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533507479	chr15:45125819-45125820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373016876	chr15:45125844-45125845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376512163	chr15:45125857-45125858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553725071	chr15:45125963-45125964	Weak transcription 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	19212409	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45120400-45125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:45120400-45128400	Weak transcription	Spleen	Spleen
3	chr15:45120800-45129400	Enhancers	HepG2	liver
4	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:45121200-45124600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:45121400-45125200	Enhancers	Fetal Thymus	thymus
7	chr15:45121800-45124600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:45123000-45125000	Enhancers	K562	blood
9	chr15:45123600-45125200	Enhancers	Dnd41	blood
10	chr15:45123800-45125000	Weak transcription	Stomach Mucosa	stomach
11	chr15:45123800-45126000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:45123800-45126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:45123800-45126000	Weak transcription	HMEC	breast
14	chr15:45123800-45131000	Weak transcription	NHEK	skin
15	chr15:45124000-45125800	Enhancers	Liver	Liver
16	chr15:45124200-45125200	Enhancers	Pancreas	Pancrea
17	chr15:45124600-45126200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:45124600-45130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:45125000-45125200	Enhancers	Stomach Mucosa	stomach
20	chr15:45125200-45126000	Weak transcription	Pancreas	Pancrea
21	chr15:45125800-45128400	Weak transcription	Liver	Liver
22	chr15:45126000-45126200	Enhancers	Pancreas	Pancrea
23	chr15:45126000-45126400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:45126000-45126400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:45126000-45126400	Enhancers	HMEC	breast
26	chr15:45126400-45131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:45126400-45131400	Weak transcription	HMEC	breast
28	chr15:45128400-45128600	Enhancers	Spleen	Spleen
29	chr15:45128400-45129000	Enhancers	Liver	Liver
30	chr15:45129400-45133600	Weak transcription	HepG2	liver
31	chr15:45130400-45130800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
34	chr15:45131000-45131400	Enhancers	HSMMtube	muscle
35	chr15:45131000-45131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:45131000-45131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:45131000-45131600	Enhancers	GM12878-XiMat	blood
38	chr15:45131000-45131800	Enhancers	NHEK	skin
39	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:45131400-45131600	Bivalent Enhancer	HSMMtube	muscle
43	chr15:45131400-45131800	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:45131400-45131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:45131400-45131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr15:45131400-45131800	Enhancers	NH-A	brain
47	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr15:45131400-45132200	Enhancers	HMEC	breast
49	chr15:45131600-45133800	Weak transcription	GM12878-XiMat	blood
50	chr15:45131800-45132200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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