Variant report

Variant	esv3336976
Chromosome Location	chr15:45129810-45151008
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	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
5	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
6	BATF	chr15:45131166-45131498	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	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
11	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
12	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
13	CBX3	chr15:45149305-45149733	K562	blood:	n/a	n/a
14	CBX3	chr15:45149196-45149676	K562	blood:	n/a	n/a
15	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
16	CEBPB	chr15:45149277-45149716	K562	blood:	n/a	n/a
17	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
18	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
19	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
20	CEBPD	chr15:45149259-45149700	K562	blood:	n/a	n/a
21	CTCF	chr15:45145599-45145844	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
22	CTCF	chr15:45141197-45141353	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:45144640-45144790	HPF	lung:	n/a	n/a
24	CTCF	chr15:45145604-45145856	GM19240	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
25	CTCF	chr15:45141160-45141310	HepG2	liver:	n/a	n/a
26	CTCF	chr15:45145660-45145810	BJ	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
27	CTCF	chr15:45130247-45130298	GM10248	blood:	n/a	n/a
28	CTCF	chr15:45141220-45141370	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr15:45145640-45145790	AG09319	gingival:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
30	CTCF	chr15:45145575-45145881	GM19238	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
31	CTCF	chr15:45145680-45145830	WI-38	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
32	CTCF	chr15:45145660-45145810	AG09319	gingival:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
33	CTCF	chr15:45145660-45145810	AoAF	blood vessel:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
34	CTCF	chr15:45145660-45145810	GM12867	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
35	CTCF	chr15:45131280-45131430	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr15:45145640-45145790	HMF	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
37	CTCF	chr15:45138522-45138630	MCF-7	breast:	n/a	chr15:45138563-45138584
38	CTCF	chr15:45145563-45145866	HCT-116	colon:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
39	CTCF	chr15:45145640-45145790	NHLF	lung:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
40	CTCF	chr15:45145402-45145530	GM10266	blood:	n/a	n/a
41	CTCF	chr15:45145640-45145790	NHEK	skin:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
42	CTCF	chr15:45145610-45145840	HepG2	liver:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
43	CTCF	chr15:45141160-45141310	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr15:45145584-45145861	MCF-7	breast:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
45	CTCF	chr15:45145660-45145810	HRPEpiC	eye:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
46	CTCF	chr15:45131360-45131510	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr15:45141197-45141342	LNCaP	prostate:	n/a	n/a
48	CTCF	chr15:45138565-45138682	HepG2	liver:	n/a	n/a
49	CTCF	chr15:45145660-45145810	GM12873	blood:	n/a	chr15:45145721-45145742 chr15:45145720-45145736 chr15:45145719-45145737 chr15:45145724-45145732
50	CTCF	chr15:45145640-45145790	HUVEC	blood vessel:	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: 841 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201075540	chr15:45129820-45129821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530935422	chr15:45129822-45129823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550763146	chr15:45129875-45129876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567464224	chr15:45129939-45129940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55965668	chr15:45129961-45129962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536104314	chr15:45129982-45129983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372122479	chr15:45129983-45129984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566805862	chr15:45130003-45130004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538911493	chr15:45130080-45130081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558605893	chr15:45130089-45130090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200059652	chr15:45130107-45130108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374851526	chr15:45130112-45130113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537945746	chr15:45130116-45130117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144709468	chr15:45130121-45130122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72628407	chr15:45130133-45130134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142791163	chr15:45130236-45130237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202183569	chr15:45130292-45130293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559883827	chr15:45130317-45130318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573230982	chr15:45130352-45130353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200234380	chr15:45130367-45130368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545269360	chr15:45130368-45130369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141410691	chr15:45130393-45130394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373025219	chr15:45130396-45130397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374097160	chr15:45130416-45130417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530774588	chr15:45130444-45130445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551056857	chr15:45130497-45130498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2123146	chr15:45130596-45130597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530194090	chr15:45130598-45130599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2123147	chr15:45130632-45130633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566642689	chr15:45130751-45130752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368536035	chr15:45130785-45130786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552457492	chr15:45130792-45130793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12906918	chr15:45130793-45130794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568870270	chr15:45130817-45130818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374908816	chr15:45130909-45130910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12905786	chr15:45130914-45130915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12907088	chr15:45130917-45130918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574484154	chr15:45130922-45130923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565898858	chr15:45130923-45130924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28581380	chr15:45130931-45130932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201762088	chr15:45130960-45130961	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145905232	chr15:45130962-45130963	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148064761	chr15:45130967-45130968	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs59001077	chr15:45130968-45130969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200800497	chr15:45130972-45130973	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs149045641	chr15:45130991-45130992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561312506	chr15:45130997-45130998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530156454	chr15:45131050-45131051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576272723	chr15:45131057-45131058	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2468046	chr15:45131067-45131068	Weak transcription Enhancers	TF binding region	1 gene(s)	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:78 , 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	chr15:45123800-45131000	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
38	chr15:45141000-45142000	Enhancers	Liver	Liver
39	chr15:45141000-45142200	Enhancers	HepG2	liver
40	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
41	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:45141800-45142200	Enhancers	Lung	lung
43	chr15:45142000-45144400	Weak transcription	Liver	Liver
44	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:45142200-45143800	Weak transcription	HepG2	liver
46	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:45143800-45145400	Enhancers	HepG2	liver
48	chr15:45144400-45147200	Enhancers	Liver	Liver
49	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr15:45144600-45146000	Enhancers	K562	blood

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