Variant report

Variant	esv2581792
Chromosome Location	chr15:45131160-45146153
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	BACH1	chr15:45146115-45146175	K562	blood:	n/a	n/a
4	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
5	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
6	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
9	BCLAF1	chr15:45145496-45145860	GM12878	blood:	n/a	n/a
10	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
11	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
12	BHLHE40	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
13	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
14	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
15	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
16	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
17	CTCF	chr15:45145504-45145819	H1-hESC	embryonic stem cell:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
18	CTCF	chr15:45145600-45145750	GM12867	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
19	CTCF	chr15:45145449-45146034	A549	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
20	CTCF	chr15:45131340-45131490	NHEK	skin:	n/a	n/a
21	CTCF	chr15:45145615-45145846	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
22	CTCF	chr15:45145551-45145812	SK-N-SH_RA	brain:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
23	CTCF	chr15:45145355-45145356	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr15:45145640-45145790	RPTEC	kidney:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
25	CTCF	chr15:45145660-45145810	HAc	cerebellar:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
26	CTCF	chr15:45145640-45145790	HUVEC	blood vessel:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
27	CTCF	chr15:45145606-45145839	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
28	CTCF	chr15:45145660-45145810	HCFaa	heart:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
29	CTCF	chr15:45145619-45145862	A549	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
30	CTCF	chr15:45145660-45145810	SAEC	small airway:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
31	CTCF	chr15:45145602-45145840	Kidney_OC	kidney:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
32	CTCF	chr15:45145554-45145886	Medullo	brain:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
33	CTCF	chr15:45145618-45145848	GM13976	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
34	CTCF	chr15:45145980-45146130	BJ	skin:	n/a	n/a
35	CTCF	chr15:45141160-45141310	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr15:45131274-45131456	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr15:45145640-45145790	AG04450	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
38	CTCF	chr15:45145596-45145857	HUVEC	blood vessel:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
39	CTCF	chr15:45141197-45141353	MCF-7	breast:	n/a	n/a
40	CTCF	chr15:45141239-45141244	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr15:45145620-45145770	HVMF	connective:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
42	CTCF	chr15:45145640-45145790	HAc	cerebellar:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
43	CTCF	chr15:45145660-45145810	HPF	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
44	CTCF	chr15:45145507-45145939	GM12878	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
45	CTCF	chr15:45145660-45145810	AG04449	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
46	CTCF	chr15:45131303-45131402	Lung_OC	lung:	n/a	n/a
47	CTCF	chr15:45145660-45145810	HVMF	connective:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
48	CTCF	chr15:45145579-45145867	A549	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
49	CTCF	chr15:45145599-45145844	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
50	CTCF	chr15:45145700-45145850	GM12866	blood:	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: 644 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547908214	chr15:45131170-45131171	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568022026	chr15:45131176-45131177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533667471	chr15:45131183-45131184	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553411586	chr15:45131195-45131196	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs191600972	chr15:45131207-45131208	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538893689	chr15:45131209-45131210	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs115170332	chr15:45131216-45131217	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575875640	chr15:45131230-45131231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544860532	chr15:45131250-45131251	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554679931	chr15:45131285-45131286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs574733108	chr15:45131357-45131358	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540732313	chr15:45131382-45131383	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs182252500	chr15:45131383-45131384	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369762243	chr15:45131416-45131417	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529699090	chr15:45131444-45131445	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146997054	chr15:45131445-45131446	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs117016512	chr15:45131450-45131451	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112705782	chr15:45131451-45131452	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531532404	chr15:45131452-45131453	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs186628540	chr15:45131456-45131457	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567974050	chr15:45131517-45131518	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs189852471	chr15:45131533-45131534	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147138413	chr15:45131554-45131555	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs139294556	chr15:45131557-45131558	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552267039	chr15:45131575-45131576	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs539125674	chr15:45131588-45131589	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs183278204	chr15:45131598-45131599	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs2462034	chr15:45131602-45131603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146064642	chr15:45131616-45131617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2468045	chr15:45131622-45131623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189112218	chr15:45131628-45131629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113616469	chr15:45131636-45131637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192871400	chr15:45131646-45131647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575026597	chr15:45131658-45131659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534224214	chr15:45131665-45131666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554195331	chr15:45131675-45131676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528400510	chr15:45131684-45131685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140009918	chr15:45131687-45131688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374632740	chr15:45131696-45131697	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562559333	chr15:45131702-45131703	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200285326	chr15:45131708-45131709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201095519	chr15:45131709-45131710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562062513	chr15:45131712-45131713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527582103	chr15:45131720-45131721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372596967	chr15:45131722-45131723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547017133	chr15:45131728-45131729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183779201	chr15:45131761-45131762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28497325	chr15:45131763-45131764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549424092	chr15:45131783-45131784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569352098	chr15:45131784-45131785	Weak transcription Enhancers	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:68 , 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	chr15:45126400-45131400	Weak transcription	HMEC	breast
3	chr15:45129400-45133600	Weak transcription	HepG2	liver
4	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
6	chr15:45131000-45131400	Enhancers	HSMMtube	muscle
7	chr15:45131000-45131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:45131000-45131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr15:45131000-45131600	Enhancers	GM12878-XiMat	blood
10	chr15:45131000-45131800	Enhancers	NHEK	skin
11	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:45131400-45131600	Bivalent Enhancer	HSMMtube	muscle
15	chr15:45131400-45131800	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:45131400-45131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:45131400-45131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:45131400-45131800	Enhancers	NH-A	brain
19	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:45131400-45132200	Enhancers	HMEC	breast
21	chr15:45131600-45133800	Weak transcription	GM12878-XiMat	blood
22	chr15:45131800-45132200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:45132000-45134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:45132200-45135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:45133600-45134400	Enhancers	HepG2	liver
26	chr15:45134000-45134200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:45134000-45134600	Enhancers	Gastric	stomach
28	chr15:45134400-45141000	Weak transcription	HepG2	liver
29	chr15:45135000-45135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
32	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
33	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum
34	chr15:45141000-45142000	Enhancers	Liver	Liver
35	chr15:45141000-45142200	Enhancers	HepG2	liver
36	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
37	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:45141800-45142200	Enhancers	Lung	lung
39	chr15:45142000-45144400	Weak transcription	Liver	Liver
40	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:45142200-45143800	Weak transcription	HepG2	liver
42	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:45143800-45145400	Enhancers	HepG2	liver
44	chr15:45144400-45147200	Enhancers	Liver	Liver
45	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr15:45144600-45146000	Enhancers	K562	blood
47	chr15:45145200-45145800	Enhancers	Pancreas	Pancrea
48	chr15:45145400-45145800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr15:45145400-45145800	Enhancers	Stomach Mucosa	stomach
50	chr15:45145400-45146200	Flanking Active TSS	HepG2	liver

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