Variant report

Variant	esv3512457
Chromosome Location	chr15:56704910-56716108
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	BHLHE40	chr15:56704886-56704981	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:56715699-56715899	IMR90	lung:	n/a	n/a
3	CEBPB	chr15:56708105-56708119	IMR90	lung:	n/a	n/a
4	CEBPB	chr15:56706437-56706660	A549	lung:	n/a	n/a
5	CEBPB	chr15:56715740-56715857	A549	lung:	n/a	n/a
6	CEBPB	chr15:56708065-56708209	HepG2	liver:	n/a	n/a
7	CTCF	chr15:56709345-56709384	LNCaP	prostate:	n/a	n/a
8	CTCF	chr15:56715019-56715022	Medullo	brain:	n/a	n/a
9	E2F4	chr15:56711154-56711285	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr15:56710317-56710353	SH-SY5Y	brain:	n/a	n/a
11	POLR2A	chr15:56706703-56706752	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr15:56705169-56705313	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr15:56711271-56711315	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr15:56709606-56709635	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56714747..56716284-chr15:56716589..56718483,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261823	TF binding region

Extended variants
information (count: 448 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:448 , 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	rs550285029	chr15:56704966-56704967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12441438	chr15:56705019-56705020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532740372	chr15:56705056-56705057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76320764	chr15:56705122-56705123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78904521	chr15:56705138-56705139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541233354	chr15:56705191-56705192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146390980	chr15:56705201-56705202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534336773	chr15:56705339-56705340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193125817	chr15:56705373-56705374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12905898	chr15:56705379-56705380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139786595	chr15:56705391-56705392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141511122	chr15:56705394-56705395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557016282	chr15:56705401-56705402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375813278	chr15:56705407-56705408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200450141	chr15:56705414-56705415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185667461	chr15:56705421-56705422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372568819	chr15:56705424-56705425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374975172	chr15:56705428-56705429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190032266	chr15:56705430-56705431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377543013	chr15:56705432-56705433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74187608	chr15:56705434-56705435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13380123	chr15:56705435-56705436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66528275	chr15:56705448-56705449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71110389	chr15:56705452-56705453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13379761	chr15:56705453-56705454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56187869	chr15:56705489-56705490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397699762	chr15:56705490-56705491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549740585	chr15:56705572-56705573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553056917	chr15:56705576-56705577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577004027	chr15:56705598-56705599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573001473	chr15:56705613-56705614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552996859	chr15:56705641-56705642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541695390	chr15:56705648-56705649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555533897	chr15:56705658-56705659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575474913	chr15:56705705-56705706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10220822	chr15:56705717-56705718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541454882	chr15:56705760-56705761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148407454	chr15:56705766-56705767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574867110	chr15:56705777-56705778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543602683	chr15:56705795-56705796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564157548	chr15:56705837-56705838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7496402	chr15:56705850-56705851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150536413	chr15:56705901-56705902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559809959	chr15:56705938-56705939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528792893	chr15:56705956-56705957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184079655	chr15:56705964-56705965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567763462	chr15:56705983-56705984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139546589	chr15:56706031-56706032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550414192	chr15:56706070-56706071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540334942	chr15:56706072-56706073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56665200-56733400	Weak transcription	Fetal Kidney	kidney
2	chr15:56677600-56709600	Weak transcription	Fetal Lung	lung
3	chr15:56677800-56726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:56686000-56734600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:56690000-56717400	Weak transcription	Dnd41	blood
6	chr15:56690000-56737800	Weak transcription	Stomach Mucosa	stomach
7	chr15:56699000-56706000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:56699200-56717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:56701400-56705200	Weak transcription	Small Intestine	intestine
10	chr15:56701800-56706800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:56703600-56718000	Weak transcription	Fetal Intestine Large	intestine
12	chr15:56703600-56730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:56704000-56706000	Weak transcription	GM12878-XiMat	blood
14	chr15:56704000-56734600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:56704200-56712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:56704600-56706200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:56704800-56708200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:56704800-56717800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr15:56705400-56734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:56706000-56706800	ZNF genes & repeats	GM12878-XiMat	blood
21	chr15:56706000-56709800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:56706200-56706400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:56706400-56707200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:56706400-56709400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:56706800-56707200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr15:56706800-56709600	Weak transcription	GM12878-XiMat	blood
27	chr15:56707200-56715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:56707200-56718000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:56708200-56711200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:56709400-56710000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:56709600-56710200	ZNF genes & repeats	Fetal Lung	lung
32	chr15:56709800-56717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:56710000-56716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:56710200-56717200	Weak transcription	Fetal Lung	lung
35	chr15:56711200-56716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:56711600-56724000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:56713200-56713400	Enhancers	HSMMtube	muscle
38	chr15:56713400-56718000	Weak transcription	HSMMtube	muscle
39	chr15:56715200-56716200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:56715400-56718200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:56715400-56723000	Weak transcription	Fetal Stomach	stomach
42	chr15:56716000-56718000	Weak transcription	Thymus	Thymus
43	chr15:56716000-56718600	ZNF genes & repeats	GM12878-XiMat	blood
44	chr15:56716000-56756600	Weak transcription	HSMM	muscle

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