Variant report

Variant	esv3355403
Chromosome Location	chr15:92291548-92295946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:92294186-92294246	GM19239	blood:	n/a	n/a
2	CTCF	chr15:92295660-92295810	MCF-7	breast:	n/a	n/a
3	CTCF	chr15:92294162-92294263	GM12891	blood:	n/a	n/a
4	CTCF	chr15:92294215-92294368	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr15:92295792-92295841	MCF-7	breast:	n/a	n/a
6	CTCF	chr15:92294157-92294161	GM12891	blood:	n/a	n/a
7	CTCF	chr15:92293077-92293112	GM19239	blood:	n/a	n/a
8	CTCF	chr15:92295700-92295850	MCF-7	breast:	n/a	n/a
9	CTCF	chr15:92292614-92292708	GM19239	blood:	n/a	n/a
10	HEY1	chr15:92294079-92294333	K562	blood:	n/a	n/a
11	MAFK	chr15:92295852-92296028	HepG2	liver:	n/a	chr15:92295923-92295934
12	MAX	chr15:92295573-92296006	MCF-7	breast:	n/a	n/a
13	MYC	chr15:92292912-92293065	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr15:92294220-92294397	GM12878	blood:	n/a	n/a
15	MYC	chr15:92292905-92293180	MCF-7	breast:	n/a	n/a
16	MYC	chr15:92294202-92294400	MCF-7	breast:	n/a	n/a
17	MYC	chr15:92294229-92294246	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr15:92293132-92293179	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr15:92293073-92293090	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr15:92294160-92294220	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr15:92293181-92293199	MCF-7	breast:	n/a	n/a
22	MYC	chr15:92294105-92294117	HUVEC	blood vessel:	n/a	n/a
23	MYC	chr15:92294251-92294260	HUVEC	blood vessel:	n/a	n/a
24	MYC	chr15:92293981-92294417	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr15:92294223-92294354	MCF-7	breast:	n/a	n/a
26	PAX5	chr15:92293999-92294401	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:92293269-92293283	MCF-7	breast:	n/a	n/a
28	POLR2A	chr15:92295294-92295401	ProgFib	skin:	n/a	n/a
29	POLR2A	chr15:92293702-92293727	Gliobla	brain:	n/a	n/a
30	POLR2A	chr15:92293231-92293257	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:92293050-92293070	MCF-7	breast:	n/a	n/a
32	POLR2A	chr15:92293142-92293217	MCF-7	breast:	n/a	n/a
33	POLR2A	chr15:92292645-92292714	HepG2	liver:	n/a	n/a
34	POLR2A	chr15:92292459-92292765	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:92294248-92294420	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:92293081-92293135	MCF-7	breast:	n/a	n/a
37	POLR2A	chr15:92293075-92293079	MCF-7	breast:	n/a	n/a
38	POLR2A	chr15:92293037-92293047	MCF-7	breast:	n/a	n/a
39	POLR2A	chr15:92292607-92292644	Gliobla	brain:	n/a	n/a
40	POLR2A	chr15:92293021-92293043	MCF-7	breast:	n/a	n/a
41	POLR2A	chr15:92293018-92293048	A549	lung:	n/a	n/a
42	POLR2A	chr15:92292957-92293016	Gliobla	brain:	n/a	n/a
43	POLR2A	chr15:92293261-92293265	MCF-7	breast:	n/a	n/a
44	POLR2A	chr15:92293025-92293051	Gliobla	brain:	n/a	n/a
45	POLR2A	chr15:92294098-92294459	A549	lung:	n/a	n/a
46	POLR2A	chr15:92292952-92293000	A549	lung:	n/a	n/a
47	POLR2A	chr15:92292961-92292984	MCF-7	breast:	n/a	n/a
48	POLR2A	chr15:92293142-92293169	A549	lung:	n/a	n/a
49	POLR2A	chr15:92292665-92292672	Gliobla	brain:	n/a	n/a
50	POLR2A	chr15:92292932-92292951	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92295136..92297789-chr15:92298612..92301622,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259057	TF binding region

Extended variants
information (count: 295 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540563706	chr15:92291552-92291553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565522688	chr15:92291554-92291555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370319938	chr15:92291592-92291593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189957208	chr15:92291593-92291594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116713829	chr15:92291648-92291649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144487079	chr15:92291696-92291697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565309393	chr15:92291754-92291755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530894491	chr15:92291769-92291770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552514273	chr15:92291797-92291798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544759088	chr15:92291869-92291870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113933413	chr15:92291895-92291896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561465043	chr15:92291952-92291953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567264954	chr15:92291974-92291975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182191772	chr15:92291981-92291982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28373263	chr15:92292009-92292010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147775073	chr15:92292025-92292026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28684440	chr15:92292039-92292040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59491856	chr15:92292048-92292049	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567189792	chr15:92292057-92292058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369650691	chr15:92292076-92292077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187000279	chr15:92292154-92292155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79302449	chr15:92292162-92292163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536742020	chr15:92292166-92292167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556639334	chr15:92292178-92292179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567080216	chr15:92292185-92292186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536056738	chr15:92292262-92292263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374027986	chr15:92292287-92292288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145964290	chr15:92292288-92292289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530110688	chr15:92292300-92292301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199765924	chr15:92292397-92292398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200650829	chr15:92292402-92292403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113053092	chr15:92292403-92292404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573032571	chr15:92292413-92292414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201721155	chr15:92292426-92292427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111610615	chr15:92292427-92292428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558638143	chr15:92292428-92292429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180739546	chr15:92292447-92292448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9672838	chr15:92292493-92292494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12911885	chr15:92292518-92292519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201377868	chr15:92292542-92292543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199506040	chr15:92292543-92292544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200085838	chr15:92292545-92292546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201216351	chr15:92292553-92292554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575068679	chr15:92292566-92292567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111208030	chr15:92292567-92292568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560756980	chr15:92292570-92292571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182314921	chr15:92292572-92292573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532657372	chr15:92292582-92292583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199897439	chr15:92292587-92292588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376967008	chr15:92292605-92292606	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	17989066	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92280200-92292800	Weak transcription	Pancreas	Pancrea
2	chr15:92289000-92292600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:92292000-92294000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:92292200-92294400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr15:92292600-92293400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr15:92292800-92293600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:92292800-92293800	Genic enhancers	Pancreas	Pancrea
8	chr15:92293000-92294000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:92293400-92295600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:92293400-92296200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:92293600-92293800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:92293600-92295200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr15:92293800-92295200	Enhancers	Pancreas	Pancrea
14	chr15:92294400-92295200	Enhancers	Brain Anterior Caudate	brain
15	chr15:92294400-92295800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:92294400-92296000	Enhancers	Brain Angular Gyrus	brain
17	chr15:92294400-92296200	Enhancers	Brain Cingulate Gyrus	brain
18	chr15:92294400-92296200	Enhancers	Brain Substantia Nigra	brain
19	chr15:92294400-92297400	Enhancers	Brain Hippocampus Middle	brain
20	chr15:92295000-92295400	Enhancers	Fetal Brain Male	brain
21	chr15:92295000-92295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:92295000-92295800	Enhancers	Lung	lung
23	chr15:92295000-92296000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:92295000-92296000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:92295000-92296200	Enhancers	Fetal Lung	lung
26	chr15:92295000-92297200	Enhancers	Ovary	ovary
27	chr15:92295200-92295400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:92295200-92295400	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr15:92295200-92295400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:92295200-92295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:92295200-92295800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:92295400-92295600	Enhancers	Brain Anterior Caudate	brain
33	chr15:92295400-92295600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr15:92295400-92308400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:92295600-92295800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr15:92295600-92296000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr15:92295800-92296000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr15:92295800-92296200	Enhancers	Brain Inferior Temporal Lobe	brain

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