Variant report

Variant	nsv974582
Chromosome Location	chr15:58442227-58448065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr15:58447088-58447225	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr15:58447006-58447278	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr15:58447029-58447247	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:58442239-58442444	A549	lung:	n/a	n/a
5	POLR2A	chr15:58447442-58447604	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:58443246-58443446	K562	blood:	n/a	n/a
7	POLR2A	chr15:58442393-58442484	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr15:58446093-58446138	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr15:58447070-58447267	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPC-5	chr15:58442834-58443161	NONHSAT044097
2	lnc-LIPC-6	chr15:58442474-58442762	NONHSAT044096
3	lnc-LIPC-3	chr15:58444805-58446606	NONHSAT044099
4	lnc-LIPC-2	chr15:58447159-58448260	NONHSAT044100
5	lnc-LIPC-4	chr15:58443232-58444712	NONHSAT044098

No data

Variant related genes	Relation type
ENSG00000259626	TF binding region
ENSG00000259671	TF binding region
ENSG00000259651	TF binding region
ENSG00000259600	TF binding region
ENSG00000259379	TF binding region

Extended variants
information (count: 263 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:263 , 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	rs551452400	chr15:58442234-58442235	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571400806	chr15:58442254-58442255	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
3	rs527256532	chr15:58442274-58442275	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
4	rs547439352	chr15:58442279-58442280	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
5	rs567136040	chr15:58442284-58442285	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
6	rs536158853	chr15:58442325-58442326	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
7	rs2063901	chr15:58442332-58442333	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181954877	chr15:58442335-58442336	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
9	rs112495391	chr15:58442339-58442340	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
10	rs113958753	chr15:58442349-58442350	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
11	rs147206688	chr15:58442353-58442354	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
12	rs541473958	chr15:58442360-58442361	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
13	rs8040266	chr15:58442389-58442390	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184940094	chr15:58442399-58442400	Weak transcription Genic enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
15	rs554194488	chr15:58442400-58442401	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
16	rs575181013	chr15:58442433-58442434	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
17	rs573557116	chr15:58442457-58442458	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	5 gene(s)	Overlapped CNVs	n/a
18	rs542910047	chr15:58442572-58442573	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs116651159	chr15:58442609-58442610	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576170070	chr15:58442613-58442614	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs139047448	chr15:58442664-58442665	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544903312	chr15:58442722-58442723	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs564946469	chr15:58442730-58442731	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560251517	chr15:58442769-58442770	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142963368	chr15:58442839-58442840	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs79973169	chr15:58442861-58442862	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs147489815	chr15:58442896-58442897	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs529705615	chr15:58442935-58442936	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544046924	chr15:58442936-58442937	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs564320114	chr15:58442937-58442938	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs575776027	chr15:58442943-58442944	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs543003473	chr15:58442994-58442995	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs532125403	chr15:58442995-58442996	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs189746175	chr15:58443040-58443041	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs112576170	chr15:58443115-58443116	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs551578163	chr15:58443197-58443198	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571371913	chr15:58443198-58443199	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564927516	chr15:58443208-58443209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111600028	chr15:58443260-58443261	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs113653328	chr15:58443288-58443289	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs186530706	chr15:58443328-58443329	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs533013621	chr15:58443334-58443335	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs144360340	chr15:58443345-58443346	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs576281126	chr15:58443348-58443349	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs545154375	chr15:58443370-58443371	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs12899929	chr15:58443430-58443431	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572126626	chr15:58443438-58443439	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs12902853	chr15:58443444-58443445	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191335962	chr15:58443445-58443446	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs561008132	chr15:58443483-58443484	Weak transcription Strong transcription	lncRNA	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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58433800-58442400	Weak transcription	Aorta	Aorta
2	chr15:58439400-58442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:58441000-58463800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:58441800-58443200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
5	chr15:58441800-58447600	Strong transcription	Liver	Liver
6	chr15:58442200-58442800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:58442400-58442600	Enhancers	Aorta	Aorta
8	chr15:58442800-58458800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:58443200-58450400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:58446600-58447600	Enhancers	NHEK	skin
11	chr15:58446600-58447800	Enhancers	HMEC	breast
12	chr15:58446800-58447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:58446800-58447600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:58447600-58448800	Weak transcription	Liver	Liver
15	chr15:58447800-58448800	Weak transcription	HMEC	breast

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