Variant report

Variant	nsv976929
Chromosome Location	chr15:45136882-45199085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:779)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45181194-45181211	K562	blood:	n/a	n/a
2	ARID3A	chr15:45145528-45145856	HepG2	liver:	n/a	n/a
3	ATF1	chr15:45168202-45168273	K562	blood:	n/a	n/a
4	ATF1	chr15:45182020-45182040	K562	blood:	n/a	n/a
5	ATF1	chr15:45145566-45145860	K562	blood:	n/a	n/a
6	ATF2	chr15:45174666-45175297	GM12878	blood:	n/a	n/a
7	ATF2	chr15:45174555-45175594	GM12878	blood:	n/a	n/a
8	BACH1	chr15:45146115-45146175	K562	blood:	n/a	n/a
9	BATF	chr15:45174732-45175340	GM12878	blood:	n/a	n/a
10	BATF	chr15:45191999-45192251	GM12878	blood:	n/a	n/a
11	BATF	chr15:45175615-45176106	GM12878	blood:	n/a	n/a
12	BATF	chr15:45174500-45176189	GM12878	blood:	n/a	n/a
13	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
14	BATF	chr15:45191947-45192347	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:45175527-45176004	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:45174655-45175245	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:45175417-45176211	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:45191932-45192270	GM12878	blood:	n/a	n/a
19	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
20	BCL11A	chr15:45174637-45175348	GM12878	blood:	n/a	n/a
21	BCL3	chr15:45174662-45175296	GM12878	blood:	n/a	n/a
22	BCLAF1	chr15:45173453-45173866	GM12878	blood:	n/a	n/a
23	BCLAF1	chr15:45174481-45175331	GM12878	blood:	n/a	n/a
24	BCLAF1	chr15:45145496-45145860	GM12878	blood:	n/a	n/a
25	BCLAF1	chr15:45174315-45175214	GM12878	blood:	n/a	n/a
26	BHLHE40	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
27	BHLHE40	chr15:45175681-45176068	GM12878	blood:	n/a	n/a
28	BHLHE40	chr15:45174566-45175326	GM12878	blood:	n/a	n/a
29	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
30	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
31	BRCA1	chr15:45197020-45197149	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr15:45170134-45170405	K562	blood:	n/a	n/a
33	CBX3	chr15:45153846-45154522	K562	blood:	n/a	n/a
34	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
35	CBX3	chr15:45149305-45149733	K562	blood:	n/a	n/a
36	CBX3	chr15:45149196-45149676	K562	blood:	n/a	n/a
37	CBX3	chr15:45170132-45170460	K562	blood:	n/a	n/a
38	CBX3	chr15:45154120-45154506	K562	blood:	n/a	n/a
39	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
40	CEBPB	chr15:45196986-45197328	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr15:45190228-45190235	IMR90	lung:	n/a	n/a
42	CEBPB	chr15:45190198-45190318	A549	lung:	n/a	n/a
43	CEBPB	chr15:45149277-45149716	K562	blood:	n/a	n/a
44	CEBPB	chr15:45174806-45175090	GM12878	blood:	n/a	n/a
45	CEBPB	chr15:45173553-45176123	GM12878	blood:	n/a	n/a
46	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
47	CEBPB	chr15:45173131-45173139	HepG2	liver:	n/a	n/a
48	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
49	CEBPB	chr15:45190116-45190255	HepG2	liver:	n/a	n/a
50	CEBPB	chr15:45190110-45190355	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45153661..45154310-chr15:45315073..45315837,2	NB4	blood:
2	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf43-2	chr15:45174295-45174981	NONHSAT042199

No data

Variant related genes	Relation type
ENSG00000259479	TF binding region
RNU1-119P	TF binding region
ENSG00000140263	chromatin interactions

Extended variants
information (count: 1620 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1620 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540613858	chr15:45136962-45136963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145447327	chr15:45137100-45137101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188954562	chr15:45137103-45137104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138902174	chr15:45137117-45137118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552759387	chr15:45137152-45137153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181647681	chr15:45137166-45137167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532039190	chr15:45137299-45137300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548852041	chr15:45137321-45137322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568764627	chr15:45137371-45137372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79727503	chr15:45137373-45137374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554195247	chr15:45137391-45137392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570954693	chr15:45137424-45137425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539523446	chr15:45137429-45137430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113278901	chr15:45137449-45137450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555073530	chr15:45137461-45137462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556339493	chr15:45137467-45137468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111864456	chr15:45137472-45137473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111573255	chr15:45137486-45137487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541726316	chr15:45137487-45137488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555281981	chr15:45137488-45137489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77105546	chr15:45137496-45137497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540653655	chr15:45137505-45137506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188783547	chr15:45137551-45137552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533059958	chr15:45137563-45137564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543108396	chr15:45137592-45137593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563098053	chr15:45137614-45137615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531987246	chr15:45137650-45137651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376982957	chr15:45137653-45137654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528601352	chr15:45137670-45137671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548792950	chr15:45137712-45137713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180843776	chr15:45137713-45137714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527969490	chr15:45137716-45137717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547836084	chr15:45137752-45137753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376791616	chr15:45137769-45137770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570722975	chr15:45137814-45137815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145154398	chr15:45137825-45137826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369400819	chr15:45137842-45137843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185922512	chr15:45137864-45137865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539931778	chr15:45137878-45137879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556336071	chr15:45137929-45137930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16977202	chr15:45137994-45137995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376071386	chr15:45138004-45138005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139481029	chr15:45138039-45138040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555120642	chr15:45138045-45138046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572031045	chr15:45138076-45138077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534571152	chr15:45138078-45138079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557741619	chr15:45138119-45138120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577517818	chr15:45138132-45138133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568697281	chr15:45138149-45138150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183715459	chr15:45138186-45138187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45134400-45141000	Weak transcription	HepG2	liver
2	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
4	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
5	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum
6	chr15:45141000-45142000	Enhancers	Liver	Liver
7	chr15:45141000-45142200	Enhancers	HepG2	liver
8	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
9	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:45141800-45142200	Enhancers	Lung	lung
11	chr15:45142000-45144400	Weak transcription	Liver	Liver
12	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:45142200-45143800	Weak transcription	HepG2	liver
14	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:45143800-45145400	Enhancers	HepG2	liver
16	chr15:45144400-45147200	Enhancers	Liver	Liver
17	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr15:45144600-45146000	Enhancers	K562	blood
19	chr15:45145200-45145800	Enhancers	Pancreas	Pancrea
20	chr15:45145400-45145800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:45145400-45145800	Enhancers	Stomach Mucosa	stomach
22	chr15:45145400-45146200	Flanking Active TSS	HepG2	liver
23	chr15:45145600-45145800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:45145600-45146000	Enhancers	Brain Hippocampus Middle	brain
25	chr15:45145600-45146200	Enhancers	Brain Anterior Caudate	brain
26	chr15:45145600-45147200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr15:45145800-45146000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr15:45145800-45146000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr15:45145800-45146000	Active TSS	NHDF-Ad	bronchial
30	chr15:45145800-45146200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:45145800-45146200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr15:45145800-45146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr15:45145800-45146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:45145800-45146200	Active TSS	A549	lung
35	chr15:45145800-45146200	Enhancers	Hela-S3	cervix
36	chr15:45146000-45146200	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr15:45146000-45146200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr15:45146000-45146600	Enhancers	Primary B cells from cord blood	blood
39	chr15:45146000-45147000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:45146000-45153200	Weak transcription	K562	blood
41	chr15:45146200-45147200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr15:45146200-45147600	Enhancers	HepG2	liver
43	chr15:45147200-45148400	Weak transcription	Liver	Liver
44	chr15:45147600-45151200	Weak transcription	HepG2	liver
45	chr15:45148400-45149000	Enhancers	Liver	Liver
46	chr15:45149000-45151200	Weak transcription	Liver	Liver
47	chr15:45151200-45151600	Enhancers	Liver	Liver
48	chr15:45151600-45152800	Weak transcription	Liver	Liver
49	chr15:45152800-45154000	Enhancers	Liver	Liver
50	chr15:45153200-45153800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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