Variant report

Variant	nsv1052053
Chromosome Location	chr15:92274797-92295314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:92294162-92294263	GM12891	blood:	n/a	n/a
2	CTCF	chr15:92294215-92294368	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr15:92293077-92293112	GM19239	blood:	n/a	n/a
4	CTCF	chr15:92292614-92292708	GM19239	blood:	n/a	n/a
5	CTCF	chr15:92294157-92294161	GM12891	blood:	n/a	n/a
6	CTCF	chr15:92294186-92294246	GM19239	blood:	n/a	n/a
7	HEY1	chr15:92294079-92294333	K562	blood:	n/a	n/a
8	MAX	chr15:92281337-92281450	GM12878	blood:	n/a	n/a
9	MYC	chr15:92294229-92294246	HUVEC	blood vessel:	n/a	n/a
10	MYC	chr15:92294251-92294260	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr15:92293132-92293179	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr15:92293181-92293199	MCF-7	breast:	n/a	n/a
13	MYC	chr15:92292912-92293065	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr15:92292905-92293180	MCF-7	breast:	n/a	n/a
15	MYC	chr15:92294220-92294397	GM12878	blood:	n/a	n/a
16	MYC	chr15:92293981-92294417	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr15:92285276-92285476	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr15:92294160-92294220	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr15:92294223-92294354	MCF-7	breast:	n/a	n/a
20	MYC	chr15:92294202-92294400	MCF-7	breast:	n/a	n/a
21	MYC	chr15:92293073-92293090	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr15:92294105-92294117	HUVEC	blood vessel:	n/a	n/a
23	PAX5	chr15:92293999-92294401	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:92294248-92294420	MCF-7	breast:	n/a	n/a
25	POLR2A	chr15:92293075-92293079	MCF-7	breast:	n/a	n/a
26	POLR2A	chr15:92293142-92293169	A549	lung:	n/a	n/a
27	POLR2A	chr15:92293050-92293070	MCF-7	breast:	n/a	n/a
28	POLR2A	chr15:92293018-92293048	A549	lung:	n/a	n/a
29	POLR2A	chr15:92284752-92284904	A549	lung:	n/a	n/a
30	POLR2A	chr15:92293261-92293265	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:92295294-92295401	ProgFib	skin:	n/a	n/a
32	POLR2A	chr15:92294186-92294453	Gliobla	brain:	n/a	n/a
33	POLR2A	chr15:92293025-92293051	Gliobla	brain:	n/a	n/a
34	POLR2A	chr15:92292459-92292765	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:92285362-92285386	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:92292665-92292672	Gliobla	brain:	n/a	n/a
37	POLR2A	chr15:92293142-92293217	MCF-7	breast:	n/a	n/a
38	POLR2A	chr15:92292760-92292794	HepG2	liver:	n/a	n/a
39	POLR2A	chr15:92292957-92293016	Gliobla	brain:	n/a	n/a
40	POLR2A	chr15:92293225-92293230	MCF-7	breast:	n/a	n/a
41	POLR2A	chr15:92293037-92293047	MCF-7	breast:	n/a	n/a
42	POLR2A	chr15:92285387-92285399	MCF-7	breast:	n/a	n/a
43	POLR2A	chr15:92293021-92293043	MCF-7	breast:	n/a	n/a
44	POLR2A	chr15:92294098-92294459	A549	lung:	n/a	n/a
45	POLR2A	chr15:92293269-92293283	MCF-7	breast:	n/a	n/a
46	POLR2A	chr15:92292607-92292644	Gliobla	brain:	n/a	n/a
47	POLR2A	chr15:92293081-92293135	MCF-7	breast:	n/a	n/a
48	POLR2A	chr15:92293702-92293727	Gliobla	brain:	n/a	n/a
49	POLR2A	chr15:92292645-92292714	HepG2	liver:	n/a	n/a
50	POLR2A	chr15:92292992-92293000	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:92295136..92297789-chr15:92298612..92301622,3	K562	blood:
2	chr15:92276906..92279284-chr15:92280325..92282635,2	K562	blood:
3	chr15:92276906..92279284-chr15:92280325..92282635,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS33B-7	chr15:92286071-92287185	NONHSAT048507

No data

Variant related genes	Relation type
ENSG00000259057	TF binding region

Extended variants
information (count: 971 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190200188	chr15:92275624-92275625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574692651	chr15:92275663-92275664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181891631	chr15:92275680-92275681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560521964	chr15:92275723-92275724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532441214	chr15:92275766-92275767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74029660	chr15:92275778-92275779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562971576	chr15:92275799-92275800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370927302	chr15:92275801-92275802	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs576010008	chr15:92275806-92275807	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs546378441	chr15:92275810-92275811	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs143347862	chr15:92275841-92275842	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs531749518	chr15:92275848-92275849	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs117761050	chr15:92275875-92275876	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs568629612	chr15:92275898-92275899	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs562093048	chr15:92275911-92275912	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs534487041	chr15:92275953-92275954	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs73542747	chr15:92275987-92275988	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs371264009	chr15:92275990-92275991	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs538304907	chr15:92276004-92276005	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187169486	chr15:92276008-92276009	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558183349	chr15:92276011-92276012	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374189335	chr15:92276087-92276088	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530052310	chr15:92276123-92276124	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537617312	chr15:92276141-92276142	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554365987	chr15:92276175-92276176	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574579858	chr15:92276181-92276182	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540510190	chr15:92276190-92276191	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147529960	chr15:92276240-92276241	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs548498102	chr15:92276277-92276278	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs138522608	chr15:92276284-92276285	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs141953283	chr15:92276300-92276301	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs191064555	chr15:92276308-92276309	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs377517712	chr15:92276335-92276336	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs566674360	chr15:92276360-92276361	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs71465707	chr15:92276361-92276362	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs562932948	chr15:92276385-92276386	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs201094985	chr15:92276398-92276399	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs71465708	chr15:92276399-92276400	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs201876053	chr15:92276400-92276401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs4584795	chr15:92276402-92276403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180713914	chr15:92276430-92276431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12907235	chr15:92276433-92276434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562295038	chr15:92276444-92276445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527921775	chr15:92276453-92276454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548069378	chr15:92276458-92276459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371129086	chr15:92276465-92276466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546808253	chr15:92276480-92276481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527440134	chr15:92276501-92276502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs8035187	chr15:92276511-92276512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370585236	chr15:92276543-92276544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92275600-92276400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr15:92275600-92277200	Enhancers	Brain Hippocampus Middle	brain
3	chr15:92275800-92276000	Enhancers	Brain Cingulate Gyrus	brain
4	chr15:92275800-92276400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:92276000-92276200	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr15:92276000-92276600	Enhancers	Brain Angular Gyrus	brain
7	chr15:92276000-92276600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr15:92276000-92277000	Enhancers	Brain Substantia Nigra	brain
9	chr15:92276200-92277400	Enhancers	Brain Cingulate Gyrus	brain
10	chr15:92276400-92281600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:92277000-92283200	Weak transcription	Brain Substantia Nigra	brain
12	chr15:92277200-92281800	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:92277400-92281800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:92278400-92278600	Enhancers	Ovary	ovary
15	chr15:92278600-92279600	Weak transcription	Ovary	ovary
16	chr15:92279600-92281200	Enhancers	Ovary	ovary
17	chr15:92280000-92280200	Enhancers	Pancreas	Pancrea
18	chr15:92280200-92280400	Enhancers	Adipose Nuclei	Adipose
19	chr15:92280200-92280600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr15:92280200-92292800	Weak transcription	Pancreas	Pancrea
21	chr15:92280400-92280600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:92280400-92280600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr15:92280400-92280800	Bivalent/Poised TSS	A549	lung
24	chr15:92280400-92281000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:92280600-92280800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:92280600-92280800	Active TSS	Adipose Nuclei	Adipose
27	chr15:92280800-92281000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:92281200-92281600	Weak transcription	Ovary	ovary
29	chr15:92281600-92282200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:92281600-92282200	Enhancers	Ovary	ovary
31	chr15:92281800-92282000	Enhancers	Aorta	Aorta
32	chr15:92281800-92282000	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:92281800-92282000	Bivalent Enhancer	Gastric	stomach
34	chr15:92281800-92282200	Enhancers	Brain Hippocampus Middle	brain
35	chr15:92282000-92282200	Enhancers	Gastric	stomach
36	chr15:92282000-92285400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:92282200-92283200	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:92282200-92283200	Weak transcription	Ovary	ovary
39	chr15:92282200-92288400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:92282800-92283400	Enhancers	Fetal Stomach	stomach
41	chr15:92283200-92283400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:92283200-92283400	Enhancers	Ovary	ovary
43	chr15:92283200-92283800	Enhancers	Brain Substantia Nigra	brain
44	chr15:92283200-92284000	Enhancers	Brain Hippocampus Middle	brain
45	chr15:92283800-92285200	Weak transcription	Brain Substantia Nigra	brain
46	chr15:92284000-92285200	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:92285200-92285400	Enhancers	Brain Hippocampus Middle	brain
48	chr15:92285200-92285400	Enhancers	Brain Substantia Nigra	brain
49	chr15:92285200-92285600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:92285200-92286200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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