Variant report

Variant	esv1815271
Chromosome Location	chr15:76883346-76930805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:76907151-76907359	GM12878	blood:	n/a	n/a
2	BATF	chr15:76907137-76907384	GM12878	blood:	n/a	n/a
3	CBX3	chr15:76928484-76928676	K562	blood:	n/a	n/a
4	CBX3	chr15:76928439-76928711	K562	blood:	n/a	n/a
5	CEBPB	chr15:76908855-76909056	HepG2	liver:	n/a	chr15:76908970-76908981
6	CHD2	chr15:76917763-76917765	HepG2	liver:	n/a	n/a
7	CTCF	chr15:76917697-76917885	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:76917720-76917870	HEK293	kidney:	n/a	n/a
9	CTCF	chr15:76917700-76917850	GM12874	blood:	n/a	n/a
10	CTCF	chr15:76917700-76917850	HepG2	liver:	n/a	n/a
11	CTCF	chr15:76917720-76917870	GM12878	blood:	n/a	n/a
12	CTCF	chr15:76917712-76917873	Fibrobl	skin:	n/a	n/a
13	CTCF	chr15:76917760-76917910	HCFaa	heart:	n/a	n/a
14	CTCF	chr15:76917720-76917870	Caco-2	colon:	n/a	n/a
15	CTCF	chr15:76917702-76917896	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:76917340-76917490	GM12874	blood:	n/a	n/a
17	CTCF	chr15:76917680-76917830	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:76917688-76917957	K562	blood:	n/a	n/a
19	CTCF	chr15:76917640-76917790	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr15:76917792-76917830	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr15:76917740-76917890	GM12874	blood:	n/a	n/a
22	CTCF	chr15:76917680-76917830	HRE	kidney:	n/a	n/a
23	CTCF	chr15:76917674-76917896	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:76917720-76917870	HMEC	breast:	n/a	n/a
25	CTCF	chr15:76917740-76917890	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr15:76900780-76900838	MCF-7	breast:	n/a	n/a
27	CTCF	chr15:76917940-76918090	A549	lung:	n/a	n/a
28	CTCF	chr15:76917760-76917910	HepG2	liver:	n/a	n/a
29	CTCF	chr15:76917720-76917870	K562	blood:	n/a	n/a
30	CTCF	chr15:76917642-76917956	GM12878	blood:	n/a	n/a
31	CTCF	chr15:76917650-76917871	HepG2	liver:	n/a	n/a
32	CTCF	chr15:76917740-76917890	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr15:76917640-76917790	K562	blood:	n/a	n/a
34	CTCF	chr15:76917700-76917850	MCF-7	breast:	n/a	n/a
35	CTCF	chr15:76917711-76917900	HepG2	liver:	n/a	n/a
36	CTCF	chr15:76917720-76917870	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr15:76917760-76917910	HPF	lung:	n/a	n/a
38	CTCF	chr15:76917754-76917831	GM12892	blood:	n/a	n/a
39	CTCF	chr15:76917620-76917910	HCM	heart:	n/a	n/a
40	CTCF	chr15:76917314-76917373	Fibrobl	skin:	n/a	n/a
41	CTCF	chr15:76917720-76917870	GM12869	blood:	n/a	n/a
42	CTCF	chr15:76917696-76917876	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr15:76917700-76917850	HAc	cerebellar:	n/a	n/a
44	CTCF	chr15:76917760-76917910	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr15:76917680-76917830	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr15:76917740-76917890	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr15:76917600-76917750	A549	lung:	n/a	n/a
48	CTCF	chr15:76917711-76917861	GM12878	blood:	n/a	n/a
49	CTCF	chr15:76917740-76917890	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr15:76900782-76900839	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76901065-76901115	Hela-S3	cervix:	n/a
2	chr15:76901065-76901115	AoSMC	blood vessel:	n/a
3	chr15:76901065-76901115	BE2_C	brain:	n/a
4	chr15:76901065-76901115	MCF10A-Er-Src	breast:	n/a
5	chr15:76901065-76901115	HEEpiC	esophagus:	n/a
6	chr15:76901065-76901115	AG09309	skin:	n/a
7	chr15:76901065-76901115	NH-A	brain:	n/a
8	chr15:76901065-76901115	PANC-1	pancreas:	n/a
9	chr15:76901065-76901115	MCF-7	breast:	n/a
10	chr15:76901065-76901115	HMEC	breast:	n/a
11	chr15:76901065-76901115	HNPCEpiC	eye:	n/a
12	chr15:76901065-76901115	H1-hESC	embryonic stem cell:	embryo
13	chr15:76901065-76901115	IMR90	lung:	fetal
14	chr15:76901065-76901115	A549	lung:	n/a
15	chr15:76901065-76901115	HUVEC	blood vessel:	n/a
16	chr15:76901065-76901115	HCPEpiC	choroid plexus:	n/a
17	chr15:76901065-76901115	BJ	skin:	n/a
18	chr15:76901065-76901115	AG09319	gingival:	n/a
19	chr15:76901065-76901115	NHDF-neo	bronchial:	n/a
20	chr15:76901065-76901115	SK-N-MC	brain:	n/a
21	chr15:76901065-76901115	CMK	blood:	n/a
22	chr15:76901065-76901115	Hepatocyte	liver:	n/a
23	chr15:76901065-76901115	HRE	kidney:	n/a
24	chr15:76901065-76901115	ProgFib	skin:	n/a
25	chr15:76901065-76901115	GM12878	blood:	n/a
26	chr15:76901065-76901115	NT2-D1	testis:	n/a
27	chr15:76901065-76901115	HIPEpiC	eye:	n/a
28	chr15:76901065-76901115	AG04450	lung:	fetal
29	chr15:76901065-76901115	GM12891	blood:	n/a
30	chr15:76901065-76901115	HepG2	liver:	n/a
31	chr15:76901065-76901115	Caco-2	colon:	n/a
32	chr15:76901065-76901115	HRCEpiC	kidney:	n/a
33	chr15:76901065-76901115	PFSK-1	brain:	n/a
34	chr15:76901065-76901115	GM19239	blood:	n/a
35	chr15:76901065-76901115	AG10803	skin:	n/a
36	chr15:76901065-76901115	GM06990	blood:	n/a
37	chr15:76901065-76901115	Jurkat	blood:	n/a
38	chr15:76901065-76901115	HCM	heart:	n/a
39	chr15:76901065-76901115	NB4	blood:	n/a
40	chr15:76901065-76901115	HAEpiC	amniotic membrane:	n/a
41	chr15:76901065-76901115	ECC-1	luminal epithelium:	n/a
42	chr15:76901065-76901115	PrEC	prostate:	n/a
43	chr15:76901065-76901115	ovcar-3	ovarian:	n/a
44	chr15:76901065-76901115	LNCaP	prostate:	n/a
45	chr15:76901065-76901115	SK-N-SH	brain:	n/a
46	chr15:76901065-76901115	HPAEpiC	pulmonary alveolar:	n/a
47	chr15:76901065-76901115	HCF	heart:	n/a
48	chr15:76901065-76901115	K562	blood:	n/a
49	chr15:76901065-76901115	AG04449	skin:	fetal
50	chr15:76901065-76901115	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
SCAPER	TF binding region
SCAPER	CpG island

Extended variants
information (count: 1678 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1678 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2404735	chr15:76883346-76883347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117281528	chr15:76883347-76883348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557788786	chr15:76883447-76883448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2047504	chr15:76883516-76883517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs535663531	chr15:76883521-76883522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547102426	chr15:76883528-76883529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551190758	chr15:76883598-76883599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77475362	chr15:76883624-76883625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539512727	chr15:76883629-76883630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534411806	chr15:76883639-76883640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182863412	chr15:76883671-76883672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187241823	chr15:76883775-76883776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62030415	chr15:76883797-76883798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117006699	chr15:76883837-76883838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574430383	chr15:76883854-76883855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2439989	chr15:76883862-76883863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs548344293	chr15:76883912-76883913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544059044	chr15:76883914-76883915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562728893	chr15:76883932-76883933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142625227	chr15:76883938-76883939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545854837	chr15:76883978-76883979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368061923	chr15:76884010-76884011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370798953	chr15:76884013-76884014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71405218	chr15:76884051-76884052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528466029	chr15:76884074-76884075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540272292	chr15:76884079-76884080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576363385	chr15:76884086-76884087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35994108	chr15:76884126-76884127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2469244	chr15:76884127-76884128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs529619983	chr15:76884179-76884180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551014072	chr15:76884189-76884190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559088362	chr15:76884207-76884208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71405219	chr15:76884225-76884226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569399914	chr15:76884230-76884231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565053042	chr15:76884233-76884234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114335674	chr15:76884260-76884261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566617097	chr15:76884269-76884270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376695567	chr15:76884300-76884301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73457039	chr15:76884358-76884359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192112297	chr15:76884384-76884385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527738538	chr15:76884415-76884416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184635781	chr15:76884427-76884428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370870568	chr15:76884429-76884430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200705373	chr15:76884471-76884472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10775212	chr15:76884472-76884473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202170647	chr15:76884474-76884475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577374041	chr15:76884478-76884479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148501449	chr15:76884480-76884481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557822841	chr15:76884517-76884518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188323663	chr15:76884519-76884520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76871000-76883600	Weak transcription	Ovary	ovary
2	chr15:76876000-76883600	Weak transcription	Aorta	Aorta
3	chr15:76877400-76883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:76878200-76884200	Weak transcription	Right Ventricle	heart
5	chr15:76878800-76884800	Weak transcription	Primary T cells from cord blood	blood
6	chr15:76879400-76883400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:76879600-76883400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:76879800-76885600	Weak transcription	Pancreas	Pancrea
9	chr15:76880400-76883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:76880600-76883400	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:76882000-76885200	Weak transcription	Left Ventricle	heart
12	chr15:76882000-76887800	Weak transcription	Lung	lung
13	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:76882400-76883400	Weak transcription	Brain Germinal Matrix	brain
15	chr15:76882400-76884000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:76882400-76884800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:76882400-76884800	Weak transcription	Fetal Stomach	stomach
18	chr15:76882400-76885800	Weak transcription	Fetal Intestine Small	intestine
19	chr15:76882400-76887800	Weak transcription	Primary B cells from cord blood	blood
20	chr15:76882400-76887800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:76882600-76884200	Weak transcription	Thymus	Thymus
22	chr15:76882600-76884600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:76882600-76886400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:76882800-76884600	Weak transcription	Liver	Liver
25	chr15:76883000-76884600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:76883600-76883800	Enhancers	Brain Germinal Matrix	brain
27	chr15:76884200-76884400	Enhancers	Right Ventricle	heart
28	chr15:76885800-76886000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr15:76896800-76915600	Weak transcription	Primary B cells from cord blood	blood
30	chr15:76898000-76902600	Weak transcription	Ovary	ovary
31	chr15:76898200-76909600	Weak transcription	Left Ventricle	heart
32	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
33	chr15:76899800-76904400	Weak transcription	Lung	lung
34	chr15:76900800-76901200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:76900800-76902000	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr15:76900800-76902600	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr15:76900800-76902600	ZNF genes & repeats	Fetal Stomach	stomach
38	chr15:76901000-76901800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:76901000-76902400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:76901000-76902400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:76901000-76902600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr15:76901000-76917200	Weak transcription	Gastric	stomach
43	chr15:76901200-76902400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:76901400-76901600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:76901400-76902800	ZNF genes & repeats	Dnd41	blood
46	chr15:76901400-76902800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr15:76902000-76903400	Weak transcription	Primary T cells from cord blood	blood
48	chr15:76902200-76902800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr15:76902200-76903600	Weak transcription	Brain Anterior Caudate	brain
50	chr15:76902600-76907400	Weak transcription	Fetal Stomach	stomach

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