Variant report

Variant	esv3499074
Chromosome Location	chr15:45131769-45145923
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	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
7	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
8	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
9	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
10	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
11	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
12	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
13	CTCF	chr15:45145621-45145819	A549	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
14	CTCF	chr15:45145680-45145830	WI-38	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
15	CTCF	chr15:45145620-45145770	GM12873	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
16	CTCF	chr15:45141160-45141310	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr15:45145374-45146081	A549	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145388-45145396 chr15:45145719-45145737 chr15:45145724-45145732
18	CTCF	chr15:45145564-45145896	GM12878	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
19	CTCF	chr15:45145660-45145810	HPAF	blood vessel:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
20	CTCF	chr15:45134307-45134333	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr15:45145600-45145750	NHEK	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
22	CTCF	chr15:45141105-45141352	K562	blood:	n/a	n/a
23	CTCF	chr15:45145512-45145930	K562	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
24	CTCF	chr15:45145586-45145862	Fibrobl	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
25	CTCF	chr15:45145640-45145790	Hela-S3	cervix:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
26	CTCF	chr15:45145640-45145790	GM12866	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
27	CTCF	chr15:45145507-45145939	GM12878	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
28	CTCF	chr15:45145660-45145810	HFF-Myc	foreskin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
29	CTCF	chr15:45138541-45138598	GM13976	blood:	n/a	chr15:45138563-45138584
30	CTCF	chr15:45145660-45145810	GM12864	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
31	CTCF	chr15:45145640-45145790	BE2_C	brain:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
32	CTCF	chr15:45145476-45145875	HepG2	liver:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
33	CTCF	chr15:45145600-45145750	GM12867	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
34	CTCF	chr15:45145660-45145810	GM12873	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
35	CTCF	chr15:45145575-45145824	T-47D	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
36	CTCF	chr15:45145362-45145463	Spleen_OC	spleen:	n/a	chr15:45145388-45145396
37	CTCF	chr15:45141212-45141334	LNCaP	prostate:	n/a	n/a
38	CTCF	chr15:45145620-45145770	Caco-2	colon:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
39	CTCF	chr15:45145660-45145810	HEEpiC	esophagus:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
40	CTCF	chr15:45145577-45145887	GM13977	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
41	CTCF	chr15:45145509-45145825	T-47D	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
42	CTCF	chr15:45145640-45145790	GM12869	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
43	CTCF	chr15:45145660-45145810	GM12865	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
44	CTCF	chr15:45145640-45145790	WI-38	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
45	CTCF	chr15:45145590-45145873	NHEK	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
46	CTCF	chr15:45138479-45138666	K562	blood:	n/a	chr15:45138563-45138584
47	CTCF	chr15:45145640-45145790	GM12864	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
48	CTCF	chr15:45145640-45145790	HL-60	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
49	CTCF	chr15:45145584-45145861	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
50	CTCF	chr15:45145620-45145841	H1-hESC	embryonic stem cell:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732

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: 591 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:591 , 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	rs549424092	chr15:45131783-45131784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569352098	chr15:45131784-45131785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371000334	chr15:45131795-45131796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566090832	chr15:45131796-45131797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187943712	chr15:45131856-45131857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191517431	chr15:45131857-45131858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183998342	chr15:45131860-45131861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554232069	chr15:45131875-45131876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577277704	chr15:45131895-45131896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188046573	chr15:45131923-45131924	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2468044	chr15:45131928-45131929	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2960205	chr15:45131947-45131948	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542049618	chr15:45131988-45131989	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143571215	chr15:45132048-45132049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561709799	chr15:45132094-45132095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370286475	chr15:45132095-45132096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370707834	chr15:45132141-45132142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2468043	chr15:45132145-45132146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148570829	chr15:45132177-45132178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563748239	chr15:45132201-45132202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532718376	chr15:45132218-45132219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200051088	chr15:45132239-45132240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150965520	chr15:45132281-45132282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559127047	chr15:45132284-45132285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563435208	chr15:45132285-45132286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528963041	chr15:45132302-45132303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140770301	chr15:45132348-45132349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568536352	chr15:45132357-45132358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577333379	chr15:45132370-45132371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548071182	chr15:45132410-45132411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12595326	chr15:45132433-45132434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191349091	chr15:45132485-45132486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556274559	chr15:45132502-45132503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570166764	chr15:45132507-45132508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535550216	chr15:45132517-45132518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185503912	chr15:45132522-45132523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555552674	chr15:45132578-45132579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571867269	chr15:45132579-45132580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190757480	chr15:45132606-45132607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557675632	chr15:45132607-45132608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553369418	chr15:45132638-45132639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12593337	chr15:45132648-45132649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563112946	chr15:45132691-45132692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529009399	chr15:45132699-45132700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34661291	chr15:45132748-45132749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542325275	chr15:45132810-45132811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147020204	chr15:45132813-45132814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74009444	chr15:45132823-45132824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548008249	chr15:45132831-45132832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571202092	chr15:45132834-45132835	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:45129400-45133600	Weak transcription	HepG2	liver
3	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
5	chr15:45131000-45131800	Enhancers	NHEK	skin
6	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:45131400-45131800	Enhancers	Primary hematopoietic stem cells	blood
10	chr15:45131400-45131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:45131400-45131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:45131400-45131800	Enhancers	NH-A	brain
13	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:45131400-45132200	Enhancers	HMEC	breast
15	chr15:45131600-45133800	Weak transcription	GM12878-XiMat	blood
16	chr15:45131800-45132200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:45132000-45134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:45132200-45135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:45133600-45134400	Enhancers	HepG2	liver
20	chr15:45134000-45134200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:45134000-45134600	Enhancers	Gastric	stomach
22	chr15:45134400-45141000	Weak transcription	HepG2	liver
23	chr15:45135000-45135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
26	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
27	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:45141000-45142000	Enhancers	Liver	Liver
29	chr15:45141000-45142200	Enhancers	HepG2	liver
30	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
31	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr15:45141800-45142200	Enhancers	Lung	lung
33	chr15:45142000-45144400	Weak transcription	Liver	Liver
34	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:45142200-45143800	Weak transcription	HepG2	liver
36	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:45143800-45145400	Enhancers	HepG2	liver
38	chr15:45144400-45147200	Enhancers	Liver	Liver
39	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr15:45144600-45146000	Enhancers	K562	blood
41	chr15:45145200-45145800	Enhancers	Pancreas	Pancrea
42	chr15:45145400-45145800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr15:45145400-45145800	Enhancers	Stomach Mucosa	stomach
44	chr15:45145400-45146200	Flanking Active TSS	HepG2	liver
45	chr15:45145600-45145800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr15:45145600-45146000	Enhancers	Brain Hippocampus Middle	brain
47	chr15:45145600-45146200	Enhancers	Brain Anterior Caudate	brain
48	chr15:45145600-45147200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr15:45145800-45146000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr15:45145800-45146000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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