Variant report

Variant	esv3499684
Chromosome Location	chr15:45130660-45140008
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	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
2	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
3	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
4	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
5	CTCF	chr15:45138545-45138554	GM10266	blood:	n/a	n/a
6	CTCF	chr15:45131274-45131456	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr15:45131406-45131421	GM13977	blood:	n/a	n/a
8	CTCF	chr15:45131340-45131490	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr15:45138461-45138641	HepG2	liver:	n/a	chr15:45138563-45138584
10	CTCF	chr15:45131340-45131490	NHEK	skin:	n/a	n/a
11	CTCF	chr15:45131303-45131402	Lung_OC	lung:	n/a	n/a
12	CTCF	chr15:45138505-45138644	Pancreas_OC	pancreas:	n/a	chr15:45138563-45138584
13	CTCF	chr15:45138526-45138614	Hela-S3	cervix:	n/a	chr15:45138563-45138584
14	CTCF	chr15:45134307-45134333	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr15:45131360-45131510	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr15:45131339-45131345	GM10248	blood:	n/a	n/a
17	CTCF	chr15:45138539-45138575	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr15:45131350-45131413	GM10248	blood:	n/a	n/a
19	CTCF	chr15:45138479-45138666	K562	blood:	n/a	chr15:45138563-45138584
20	CTCF	chr15:45138576-45138589	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr15:45138426-45138674	K562	blood:	n/a	chr15:45138563-45138584
22	CTCF	chr15:45138565-45138682	HepG2	liver:	n/a	n/a
23	CTCF	chr15:45131280-45131430	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr15:45138541-45138598	GM13976	blood:	n/a	chr15:45138563-45138584
25	CTCF	chr15:45138522-45138630	MCF-7	breast:	n/a	chr15:45138563-45138584
26	CTCF	chr15:45131360-45131510	HRE	kidney:	n/a	n/a
27	EBF1	chr15:45131202-45131491	GM12878	blood:	n/a	n/a
28	EBF1	chr15:45131249-45131529	GM12878	blood:	n/a	n/a
29	FOS	chr15:45131190-45131460	MCF10A-Er-Src	breast:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
30	FOS	chr15:45131034-45131541	HUVEC	blood vessel:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
31	FOS	chr15:45131118-45131484	MCF10A-Er-Src	breast:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
32	GATA2	chr15:45131073-45131455	HUVEC	blood vessel:	n/a	chr15:45131381-45131390 chr15:45131384-45131393
33	GATA2	chr15:45137164-45137577	K562	blood:	n/a	chr15:45137400-45137417
34	IKZF1	chr15:45131175-45131360	GM12878	blood:	n/a	n/a
35	IRF4	chr15:45131187-45131487	GM12878	blood:	n/a	n/a
36	IRF4	chr15:45137153-45137489	GM12878	blood:	n/a	n/a
37	IRF4	chr15:45131188-45131537	GM12878	blood:	n/a	n/a
38	JUN	chr15:45131054-45131545	HUVEC	blood vessel:	n/a	chr15:45131383-45131391 chr15:45131381-45131393 chr15:45131379-45131390
39	MYC	chr15:45131695-45131704	HUVEC	blood vessel:	n/a	n/a
40	MYC	chr15:45131084-45131263	HUVEC	blood vessel:	n/a	n/a
41	PAX5	chr15:45131062-45131407	GM12878	blood:	n/a	chr15:45131356-45131365
42	PAX5	chr15:45131137-45131397	GM12878	blood:	n/a	chr15:45131356-45131365
43	PAX5	chr15:45131084-45131525	GM12878	blood:	n/a	chr15:45131356-45131365
44	PAX5	chr15:45131215-45131403	GM12878	blood:	n/a	chr15:45131356-45131365
45	POLR2A	chr15:45131176-45131205	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr15:45131911-45131988	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:45130936-45130988	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr15:45131004-45131559	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr15:45130873-45130903	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr15:45131042-45131475	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000238845	TF binding region

Extended variants
information (count: 406 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566642689	chr15:45130751-45130752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368536035	chr15:45130785-45130786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552457492	chr15:45130792-45130793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12906918	chr15:45130793-45130794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568870270	chr15:45130817-45130818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374908816	chr15:45130909-45130910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12905786	chr15:45130914-45130915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12907088	chr15:45130917-45130918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574484154	chr15:45130922-45130923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565898858	chr15:45130923-45130924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28581380	chr15:45130931-45130932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201762088	chr15:45130960-45130961	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145905232	chr15:45130962-45130963	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs148064761	chr15:45130967-45130968	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs59001077	chr15:45130968-45130969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200800497	chr15:45130972-45130973	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs149045641	chr15:45130991-45130992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561312506	chr15:45130997-45130998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530156454	chr15:45131050-45131051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576272723	chr15:45131057-45131058	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2468046	chr15:45131067-45131068	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540686825	chr15:45131070-45131071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2443990	chr15:45131079-45131080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558843461	chr15:45131081-45131082	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2462036	chr15:45131084-45131085	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs2462035	chr15:45131096-45131097	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs57521242	chr15:45131133-45131134	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569218514	chr15:45131135-45131136	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531622187	chr15:45131152-45131153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547908214	chr15:45131170-45131171	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568022026	chr15:45131176-45131177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs533667471	chr15:45131183-45131184	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs553411586	chr15:45131195-45131196	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191600972	chr15:45131207-45131208	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538893689	chr15:45131209-45131210	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115170332	chr15:45131216-45131217	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575875640	chr15:45131230-45131231	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544860532	chr15:45131250-45131251	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs554679931	chr15:45131285-45131286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs574733108	chr15:45131357-45131358	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540732313	chr15:45131382-45131383	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs182252500	chr15:45131383-45131384	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs369762243	chr15:45131416-45131417	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529699090	chr15:45131444-45131445	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs146997054	chr15:45131445-45131446	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs117016512	chr15:45131450-45131451	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112705782	chr15:45131451-45131452	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs531532404	chr15:45131452-45131453	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186628540	chr15:45131456-45131457	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567974050	chr15:45131517-45131518	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45120800-45131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:45123800-45131000	Weak transcription	NHEK	skin
3	chr15:45124600-45130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:45126400-45131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:45126400-45131400	Weak transcription	HMEC	breast
6	chr15:45129400-45133600	Weak transcription	HepG2	liver
7	chr15:45130400-45130800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:45130800-45132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:45130800-45132400	Enhancers	HUVEC	blood vessel
10	chr15:45131000-45131400	Enhancers	HSMMtube	muscle
11	chr15:45131000-45131600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:45131000-45131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:45131000-45131600	Enhancers	GM12878-XiMat	blood
14	chr15:45131000-45131800	Enhancers	NHEK	skin
15	chr15:45131000-45132000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45131000-45132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:45131000-45132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:45131400-45131600	Bivalent Enhancer	HSMMtube	muscle
19	chr15:45131400-45131800	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:45131400-45131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:45131400-45131800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:45131400-45131800	Enhancers	NH-A	brain
23	chr15:45131400-45132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:45131400-45132200	Enhancers	HMEC	breast
25	chr15:45131600-45133800	Weak transcription	GM12878-XiMat	blood
26	chr15:45131800-45132200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:45132000-45134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:45132200-45135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:45133600-45134400	Enhancers	HepG2	liver
30	chr15:45134000-45134200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:45134000-45134600	Enhancers	Gastric	stomach
32	chr15:45134400-45141000	Weak transcription	HepG2	liver
33	chr15:45135000-45135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
36	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
37	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum

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