Variant report

Variant	nsv9257
Chromosome Location	chr15:45131972-45146081
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	chr15:45145528-45145856	HepG2	liver:	n/a	n/a
2	ATF1	chr15:45145566-45145860	K562	blood:	n/a	n/a
3	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
5	BCLAF1	chr15:45145496-45145860	GM12878	blood:	n/a	n/a
6	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
7	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
8	BHLHE40	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
9	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
10	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
11	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
12	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
13	CTCF	chr15:45145660-45145810	AG04450	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
14	CTCF	chr15:45145700-45145850	GM12870	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
15	CTCF	chr15:45145613-45146000	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
16	CTCF	chr15:45145600-45145750	GM12865	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
17	CTCF	chr15:45145604-45145856	GM19240	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
18	CTCF	chr15:45141160-45141310	SAEC	small airway:	n/a	n/a
19	CTCF	chr15:45145660-45145810	HMEC	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
20	CTCF	chr15:45145660-45145810	HCM	heart:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
21	CTCF	chr15:45141160-45141310	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr15:45145640-45145790	BJ	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
23	CTCF	chr15:45138576-45138589	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr15:45145660-45145810	AG04449	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
25	CTCF	chr15:45145542-45145911	K562	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
26	CTCF	chr15:45145660-45145810	Caco-2	colon:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
27	CTCF	chr15:45145660-45145810	AG09319	gingival:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
28	CTCF	chr15:45145660-45145810	GM06990	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
29	CTCF	chr15:45145577-45145887	GM13977	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
30	CTCF	chr15:45145660-45145810	GM12878	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
31	CTCF	chr15:45145604-45145860	GM20000	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
32	CTCF	chr15:45145640-45145790	HEK293	kidney:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
33	CTCF	chr15:45145549-45145860	GM10266	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
34	CTCF	chr15:45138526-45138614	Hela-S3	cervix:	n/a	chr15:45138563-45138584
35	CTCF	chr15:45145660-45145810	AoAF	blood vessel:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
36	CTCF	chr15:45145589-45145785	SK-N-SH_RA	brain:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
37	CTCF	chr15:45141160-45141310	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr15:45145640-45145790	BE2_C	brain:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
39	CTCF	chr15:45145615-45145846	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
40	CTCF	chr15:45145660-45145810	HEK293	kidney:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
41	CTCF	chr15:45145640-45145790	AG09319	gingival:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
42	CTCF	chr15:45141160-45141310	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr15:45145590-45145873	NHEK	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
44	CTCF	chr15:45145602-45145840	Kidney_OC	kidney:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
45	CTCF	chr15:45145680-45145830	HRPEpiC	eye:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
46	CTCF	chr15:45145660-45145810	HPAF	blood vessel:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
47	CTCF	chr15:45145660-45145810	HAc	cerebellar:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
48	CTCF	chr15:45145616-45145861	GM19239	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
49	CTCF	chr15:45141239-45141244	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr15:45141103-45141426	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:

Variant related genes	Relation type
ENSG00000238845	TF binding region

Extended variants
information (count: 583 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542049618	chr15:45131988-45131989	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143571215	chr15:45132048-45132049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561709799	chr15:45132094-45132095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370286475	chr15:45132095-45132096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370707834	chr15:45132141-45132142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2468043	chr15:45132145-45132146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148570829	chr15:45132177-45132178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563748239	chr15:45132201-45132202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532718376	chr15:45132218-45132219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200051088	chr15:45132239-45132240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150965520	chr15:45132281-45132282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559127047	chr15:45132284-45132285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563435208	chr15:45132285-45132286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528963041	chr15:45132302-45132303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140770301	chr15:45132348-45132349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568536352	chr15:45132357-45132358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577333379	chr15:45132370-45132371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548071182	chr15:45132410-45132411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12595326	chr15:45132433-45132434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191349091	chr15:45132485-45132486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556274559	chr15:45132502-45132503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570166764	chr15:45132507-45132508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535550216	chr15:45132517-45132518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185503912	chr15:45132522-45132523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555552674	chr15:45132578-45132579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571867269	chr15:45132579-45132580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190757480	chr15:45132606-45132607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557675632	chr15:45132607-45132608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553369418	chr15:45132638-45132639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12593337	chr15:45132648-45132649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563112946	chr15:45132691-45132692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529009399	chr15:45132699-45132700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34661291	chr15:45132748-45132749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542325275	chr15:45132810-45132811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147020204	chr15:45132813-45132814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74009444	chr15:45132823-45132824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548008249	chr15:45132831-45132832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571202092	chr15:45132834-45132835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4774761	chr15:45132853-45132854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530627095	chr15:45132898-45132899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545555092	chr15:45132979-45132980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569916641	chr15:45133021-45133022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143122943	chr15:45133027-45133028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555531332	chr15:45133030-45133031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181721872	chr15:45133040-45133041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141903284	chr15:45133090-45133091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187124003	chr15:45133091-45133092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577542194	chr15:45133096-45133097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34984953	chr15:45133129-45133130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189099677	chr15:45133131-45133132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45129400-45133600	Weak transcription	HepG2	liver
2	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
4	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:45131400-45132200	Enhancers	HMEC	breast
9	chr15:45131600-45133800	Weak transcription	GM12878-XiMat	blood
10	chr15:45131800-45132200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:45132000-45134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:45132200-45135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:45133600-45134400	Enhancers	HepG2	liver
14	chr15:45134000-45134200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:45134000-45134600	Enhancers	Gastric	stomach
16	chr15:45134400-45141000	Weak transcription	HepG2	liver
17	chr15:45135000-45135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
20	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
21	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum
22	chr15:45141000-45142000	Enhancers	Liver	Liver
23	chr15:45141000-45142200	Enhancers	HepG2	liver
24	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
25	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:45141800-45142200	Enhancers	Lung	lung
27	chr15:45142000-45144400	Weak transcription	Liver	Liver
28	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:45142200-45143800	Weak transcription	HepG2	liver
30	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr15:45143800-45145400	Enhancers	HepG2	liver
32	chr15:45144400-45147200	Enhancers	Liver	Liver
33	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr15:45144600-45146000	Enhancers	K562	blood
35	chr15:45145200-45145800	Enhancers	Pancreas	Pancrea
36	chr15:45145400-45145800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr15:45145400-45145800	Enhancers	Stomach Mucosa	stomach
38	chr15:45145400-45146200	Flanking Active TSS	HepG2	liver
39	chr15:45145600-45145800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr15:45145600-45146000	Enhancers	Brain Hippocampus Middle	brain
41	chr15:45145600-45146200	Enhancers	Brain Anterior Caudate	brain
42	chr15:45145600-45147200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr15:45145800-45146000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr15:45145800-45146000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:45145800-45146000	Active TSS	NHDF-Ad	bronchial
46	chr15:45145800-45146200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:45145800-45146200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr15:45145800-45146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr15:45145800-45146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:45145800-45146200	Active TSS	A549	lung

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