Variant report

Variant	nsv976953
Chromosome Location	chr15:76179499-76184299
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	CEBPB	chr15:76184299-76184657	K562	blood:	n/a	chr15:76184504-76184517 chr15:76184504-76184517 chr15:76184505-76184516 chr15:76184504-76184515
2	CEBPB	chr15:76184081-76184710	IMR90	lung:	n/a	chr15:76184504-76184517 chr15:76184504-76184517 chr15:76184505-76184516 chr15:76184504-76184515
3	CTCF	chr15:76183990-76184013	Medullo	brain:	n/a	n/a
4	E2F4	chr15:76184036-76184096	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr15:76184240-76184489	SK-N-SH_RA	brain:	n/a	chr15:76184412-76184421 chr15:76184411-76184425
6	FOS	chr15:76184233-76184602	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
7	FOS	chr15:76184058-76184598	HUVEC	blood vessel:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
8	FOS	chr15:76184233-76184575	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
9	FOS	chr15:76184233-76184566	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
10	FOS	chr15:76184233-76184603	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
11	FOSL2	chr15:76184293-76184580	HepG2	liver:	n/a	chr15:76184419-76184429 chr15:76184419-76184429 chr15:76184419-76184429
12	FOSL2	chr15:76184122-76184689	SK-N-SH	brain:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184419-76184429
13	FOXA1	chr15:76179484-76179992	HepG2	liver:	n/a	n/a
14	FOXA1	chr15:76179506-76179992	HepG2	liver:	n/a	n/a
15	FOXA1	chr15:76179438-76179881	HepG2	liver:	n/a	n/a
16	FOXA1	chr15:76179550-76179876	HepG2	liver:	n/a	n/a
17	FOXA2	chr15:76179093-76180207	HepG2	liver:	n/a	n/a
18	FOXA2	chr15:76179588-76179889	HepG2	liver:	n/a	n/a
19	GATA2	chr15:76183915-76184620	HUVEC	blood vessel:	n/a	chr15:76184413-76184423
20	GATA3	chr15:76182974-76183311	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr15:76184186-76184832	SK-N-SH	brain:	n/a	chr15:76184413-76184423
22	GATA3	chr15:76184017-76184818	SK-N-SH	brain:	n/a	chr15:76184413-76184423
23	GTF2F1	chr15:76179610-76179661	K562	blood:	n/a	n/a
24	IRF1	chr15:76182387-76182388	K562	blood:	n/a	n/a
25	IRF1	chr15:76180414-76180611	K562	blood:	n/a	n/a
26	JUN	chr15:76184231-76184600	HUVEC	blood vessel:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184419-76184429
27	JUND	chr15:76184272-76184602	K562	blood:	n/a	chr15:76184419-76184429 chr15:76184419-76184429 chr15:76184419-76184429
28	JUND	chr15:76184283-76184562	HepG2	liver:	n/a	chr15:76184419-76184429 chr15:76184419-76184429 chr15:76184419-76184429
29	MAFF	chr15:76180158-76180402	HepG2	liver:	n/a	chr15:76180243-76180261
30	MAFK	chr15:76179859-76180407	HepG2	liver:	n/a	chr15:76180245-76180256 chr15:76180244-76180258 chr15:76180245-76180261 chr15:76180245-76180256 chr15:76180245-76180260 chr15:76180246-76180257
31	MAFK	chr15:76180104-76180346	HepG2	liver:	n/a	chr15:76180245-76180256 chr15:76180244-76180258 chr15:76180245-76180261 chr15:76180245-76180256 chr15:76180245-76180260 chr15:76180246-76180257
32	MAZ	chr15:76183902-76185223	IMR90	lung:	n/a	n/a
33	MXI1	chr15:76183783-76184712	IMR90	lung:	n/a	n/a
34	POLR2A	chr15:76184197-76184493	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr15:76184113-76184216	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr15:76183959-76184060	MCF-7	breast:	n/a	n/a
37	POLR2A	chr15:76184203-76184623	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr15:76183059-76183093	ProgFib	skin:	n/a	n/a
39	POLR2A	chr15:76179595-76179890	K562	blood:	n/a	n/a
40	POLR2A	chr15:76182303-76182343	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr15:76184179-76184543	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:76184123-76184546	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr15:76183867-76184727	IMR90	lung:	n/a	n/a
44	POLR2A	chr15:76181851-76181965	K562	blood:	n/a	n/a
45	RAD21	chr15:76184246-76184499	SK-N-SH_RA	brain:	n/a	n/a
46	STAT3	chr15:76179555-76179723	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF12	chr15:76184005-76184817	SK-N-SH	brain:	n/a	chr15:76184320-76184330
48	TCF12	chr15:76184126-76184805	SK-N-SH	brain:	n/a	chr15:76184320-76184330
49	USF1	chr15:76179596-76179772	HepG2	liver:	n/a	n/a
50	ZNF384	chr15:76179837-76179963	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76119180..76121817-chr15:76184055..76185596,2	K562	blood:
2	chr15:76179685..76181538-chr15:76200237..76202606,2	K562	blood:
3	chr15:76177375..76179318-chr15:76182768..76185723,2	MCF-7	breast:
4	chr15:76182009..76185203-chr15:76186533..76188570,4	K562	blood:
5	chr15:76172673..76175756-chr15:76183628..76185667,3	K562	blood:
6	chr15:76173887..76175756-chr15:76183628..76185544,2	K562	blood:
7	chr15:76135763..76139600-chr15:76181865..76185802,4	MCF-7	breast:
8	chr15:76167386..76170253-chr15:76181012..76182661,2	K562	blood:

Variant related genes	Relation type
RN7SL510P	TF binding region
ENSG00000140367	chromatin interactions
ENSG00000266308	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180681326	chr15:76179528-76179529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557644579	chr15:76179535-76179536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532874803	chr15:76179557-76179558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370354128	chr15:76179580-76179581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186131227	chr15:76179596-76179597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566039238	chr15:76179620-76179621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74024014	chr15:76179664-76179665	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115975633	chr15:76179691-76179692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540363146	chr15:76179733-76179734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377259052	chr15:76179765-76179766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143835975	chr15:76179776-76179777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560800883	chr15:76179810-76179811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77078223	chr15:76179816-76179817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112001679	chr15:76179823-76179824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192238449	chr15:76179831-76179832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76187379	chr15:76179834-76179835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559490980	chr15:76179846-76179847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375482664	chr15:76179856-76179857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151121237	chr15:76179864-76179865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564541904	chr15:76179878-76179879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375079084	chr15:76179923-76179924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200538631	chr15:76179927-76179928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116439762	chr15:76179965-76179966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547066644	chr15:76179969-76179970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1699278	chr15:76179982-76179983	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112382016	chr15:76180032-76180033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536020580	chr15:76180050-76180051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548282955	chr15:76180099-76180100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141805357	chr15:76180110-76180111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569548762	chr15:76180116-76180117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60088262	chr15:76180166-76180167	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs537130996	chr15:76180190-76180191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8027221	chr15:76180209-76180210	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566508805	chr15:76180255-76180256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533556893	chr15:76180267-76180268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550376575	chr15:76180324-76180325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184033459	chr15:76180397-76180398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1699277	chr15:76180398-76180399	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573418959	chr15:76180459-76180460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75449835	chr15:76180465-76180466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111491069	chr15:76180476-76180477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187440959	chr15:76180485-76180486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1695378	chr15:76180546-76180547	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553362834	chr15:76180564-76180565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190511592	chr15:76180585-76180586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59143042	chr15:76180651-76180652	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs1699276	chr15:76180675-76180676	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183075697	chr15:76180842-76180843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373551553	chr15:76180877-76180878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573043041	chr15:76180892-76180893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76137800-76188400	Weak transcription	Brain Anterior Caudate	brain
2	chr15:76138000-76179600	Weak transcription	Small Intestine	intestine
3	chr15:76138200-76183000	Weak transcription	Hela-S3	cervix
4	chr15:76138200-76195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:76138200-76195400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:76138400-76184000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:76140000-76184000	Weak transcription	Fetal Kidney	kidney
8	chr15:76141400-76195200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:76145200-76195200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr15:76149000-76195600	Weak transcription	Colonic Mucosa	Colon
11	chr15:76152800-76193400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:76159800-76195400	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:76161000-76182200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:76161800-76182000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:76162000-76184000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:76164200-76182400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:76165400-76188800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:76165600-76185800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:76165600-76194800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:76165800-76186600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:76166200-76186600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:76166400-76193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:76166400-76194600	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:76166400-76195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:76166400-76195400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:76166400-76195800	Weak transcription	Gastric	stomach
27	chr15:76166600-76194400	Weak transcription	Right Ventricle	heart
28	chr15:76166600-76195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:76166600-76195400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:76166600-76195800	Weak transcription	Aorta	Aorta
31	chr15:76166800-76184200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:76166800-76195400	Weak transcription	Fetal Intestine Small	intestine
33	chr15:76167000-76194400	Weak transcription	Spleen	Spleen
34	chr15:76167000-76195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:76167000-76195800	Weak transcription	Esophagus	oesophagus
36	chr15:76167200-76182400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:76167200-76184000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr15:76167200-76184800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:76167200-76193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:76167200-76195200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:76167200-76195600	Weak transcription	Lung	lung
42	chr15:76167600-76195400	Weak transcription	Brain Angular Gyrus	brain
43	chr15:76168000-76183000	Weak transcription	NHEK	skin
44	chr15:76168000-76185800	Weak transcription	Fetal Lung	lung
45	chr15:76168200-76195000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr15:76168800-76183000	Weak transcription	Fetal Brain Female	brain
47	chr15:76169400-76183200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:76170400-76181200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:76172000-76179600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:76172000-76180800	Weak transcription	HUVEC	blood vessel

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