Variant report

Variant	esv3338138
Chromosome Location	chr15:79007897-79012695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:79007938-79008043	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:79008184-79008692	IMR90	lung:	n/a	n/a
3	CEBPB	chr15:79008175-79008629	A549	lung:	n/a	n/a
4	CEBPB	chr15:79012287-79012799	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr15:79007862-79008749	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr15:79007919-79008506	HCT-116	colon:	n/a	n/a
7	CHD2	chr15:79012458-79012654	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr15:79008275-79008668	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr15:79012562-79012628	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:79012640-79012790	A549	lung:	n/a	n/a
11	E2F4	chr15:79007784-79009050	MCF10A-Er-Src	breast:	n/a	n/a
12	EGR1	chr15:79012396-79012680	K562	blood:	n/a	n/a
13	EP300	chr15:79008494-79008510	GM12878	blood:	n/a	n/a
14	EP300	chr15:79008059-79008611	Hela-S3	cervix:	n/a	n/a
15	FOS	chr15:79007755-79008683	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr15:79012575-79012581	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr15:79007760-79008714	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr15:79007755-79008757	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr15:79007324-79008732	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr15:79008093-79008609	HUVEC	blood vessel:	n/a	n/a
21	FOSL1	chr15:79007749-79008269	HCT-116	colon:	n/a	n/a
22	FOSL2	chr15:79008254-79008700	A549	lung:	n/a	n/a
23	FOXA1	chr15:79012466-79012754	T-47D	breast:	n/a	n/a
24	FOXA1	chr15:79012474-79012752	HepG2	liver:	n/a	n/a
25	FOXA1	chr15:79012392-79012760	HepG2	liver:	n/a	n/a
26	FOXA1	chr15:79012461-79012771	HepG2	liver:	n/a	n/a
27	FOXA1	chr15:79012444-79012849	HepG2	liver:	n/a	n/a
28	FOXA1	chr15:79012480-79012773	T-47D	breast:	n/a	n/a
29	FOXA2	chr15:79012263-79012966	A549	lung:	n/a	n/a
30	FOXA2	chr15:79012482-79012761	HepG2	liver:	n/a	n/a
31	FOXA2	chr15:79012205-79013037	A549	lung:	n/a	n/a
32	GTF2F1	chr15:79012582-79012705	Hela-S3	cervix:	n/a	n/a
33	GTF3C2	chr15:79007697-79008971	Hela-S3	cervix:	n/a	n/a
34	HEY1	chr15:79012440-79012705	K562	blood:	n/a	n/a
35	JUN	chr15:79007847-79008602	Hela-S3	cervix:	n/a	n/a
36	JUN	chr15:79010470-79010670	K562	blood:	n/a	n/a
37	JUND	chr15:79007781-79008627	Hela-S3	cervix:	n/a	n/a
38	KAP1	chr15:79012315-79012777	HEK293	kidney:	n/a	n/a
39	MAX	chr15:79012449-79012799	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr15:79012610-79012763	Hela-S3	cervix:	n/a	n/a
41	MYC	chr15:79012489-79012657	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr15:79012431-79012708	MCF-7	breast:	n/a	n/a
43	MYC	chr15:79012548-79012635	MCF-7	breast:	n/a	n/a
44	MYC	chr15:79007952-79008672	MCF10A-Er-Src	breast:	n/a	chr15:79008451-79008460
45	MYC	chr15:79012339-79012358	MCF-7	breast:	n/a	n/a
46	MYC	chr15:79007869-79008064	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr15:79008307-79008623	MCF10A-Er-Src	breast:	n/a	chr15:79008451-79008460
48	MYC	chr15:79012397-79012714	MCF-7	breast:	n/a	n/a
49	POLR2A	chr15:79008320-79008685	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr15:79012405-79012720	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79010822..79012780-chr15:79019538..79021262,2	MCF-7	breast:
2	chr15:78983812..78985475-chr15:79007336..79009142,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS7-1	chr15:79010710-79010807	XLOC_011540
2	lnc-CHRNA5-3	chr15:79011647-79011702	NONHSAT047592

No data

Variant related genes	Relation type
CHRNB4	TF binding region
ENSG00000117971	chromatin interactions
NECAP2	miRNA target sites

Extended variants
information (count: 178 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs180779612	chr15:79007916-79007917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11638490	chr15:79007950-79007951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs544969579	chr15:79007951-79007952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560038210	chr15:79007953-79007954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186423732	chr15:79007975-79007976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542815807	chr15:79008000-79008001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190877700	chr15:79008004-79008005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12595424	chr15:79008014-79008015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531481097	chr15:79008022-79008023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549586255	chr15:79008031-79008032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34269046	chr15:79008053-79008054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71407273	chr15:79008110-79008111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1904921	chr15:79008126-79008127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532159385	chr15:79008190-79008191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150767244	chr15:79008311-79008312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577370870	chr15:79008396-79008397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368582811	chr15:79008490-79008491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139214447	chr15:79008529-79008530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149956626	chr15:79008588-79008589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567739088	chr15:79008600-79008601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528453416	chr15:79008645-79008646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538370869	chr15:79008657-79008658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182896567	chr15:79008701-79008702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374066563	chr15:79008702-79008703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572675305	chr15:79008705-79008706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553708433	chr15:79008710-79008711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58572268	chr15:79008840-79008841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542554586	chr15:79008949-79008950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548638036	chr15:79008960-79008961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72745113	chr15:79008966-79008967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530875808	chr15:79008994-79008995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146799028	chr15:79009068-79009069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186815817	chr15:79009071-79009072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371603920	chr15:79009096-79009097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564992343	chr15:79009163-79009164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532196125	chr15:79009241-79009242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547459640	chr15:79009263-79009264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191251937	chr15:79009269-79009270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373594808	chr15:79009283-79009284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369992511	chr15:79009289-79009290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550898976	chr15:79009357-79009358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140520646	chr15:79009365-79009366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567915936	chr15:79009370-79009371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144177796	chr15:79009381-79009382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549916998	chr15:79009399-79009400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183164260	chr15:79009414-79009415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538735746	chr15:79009419-79009420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377396265	chr15:79009524-79009525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570514798	chr15:79009556-79009557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187901328	chr15:79009601-79009602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79005800-79008200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:79007000-79009400	Enhancers	NHEK	skin
3	chr15:79007200-79009400	Enhancers	Hela-S3	cervix
4	chr15:79007400-79009000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:79007600-79008000	Weak transcription	HMEC	breast
6	chr15:79007600-79008200	Weak transcription	NH-A	brain
7	chr15:79007600-79009200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:79007800-79008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:79007800-79009400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:79007800-79009400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:79007800-79009400	Enhancers	Osteobl	bone
12	chr15:79007800-79009600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:79008000-79008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:79008000-79009200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:79008000-79009400	Enhancers	HMEC	breast
16	chr15:79008200-79009400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:79008200-79009400	Enhancers	NH-A	brain
18	chr15:79008200-79009400	Enhancers	NHDF-Ad	bronchial
19	chr15:79008800-79009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:79008800-79010000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:79009400-79011600	Weak transcription	Hela-S3	cervix
22	chr15:79010600-79011800	Enhancers	A549	lung
23	chr15:79010800-79011200	Enhancers	Colon Smooth Muscle	Colon
24	chr15:79011600-79012000	Enhancers	Hela-S3	cervix
25	chr15:79011800-79012000	Flanking Active TSS	A549	lung
26	chr15:79011800-79012600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr15:79012000-79012200	Flanking Active TSS	Hela-S3	cervix
28	chr15:79012000-79012600	Active TSS	A549	lung
29	chr15:79012000-79012600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr15:79012200-79013000	Active TSS	Hela-S3	cervix
31	chr15:79012400-79012600	Enhancers	Placenta	Placenta
32	chr15:79012400-79013000	Active TSS	Duodenum Mucosa	Duodenum

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