Variant report

Variant	esv3366898
Chromosome Location	chr15:72567548-72569446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr15:72568696-72568923	K562	blood:	n/a	n/a
2	CTCF	chr15:72568960-72569110	GM12865	blood:	n/a	n/a
3	POLR2A	chr15:72569253-72569290	K562	blood:	n/a	n/a
4	POLR2A	chr15:72568386-72568678	H1-neurons	neurons:	n/a	n/a
5	TAL1	chr15:72568651-72568860	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72567956-72568006	HEEpiC	esophagus:	n/a
2	chr15:72567956-72568006	RPTEC	kidney:	n/a
3	chr15:72567956-72568006	PANC-1	pancreas:	n/a
4	chr15:72567956-72568006	NB4	blood:	n/a
5	chr15:72567956-72568006	MCF10A-Er-Src	breast:	n/a
6	chr15:72567956-72568006	LNCaP	prostate:	n/a
7	chr15:72567956-72568006	NT2-D1	testis:	n/a
8	chr15:72567956-72568006	SK-N-SH_RA	brain:	n/a
9	chr15:72567956-72568006	Caco-2	colon:	n/a
10	chr15:72567956-72568006	MCF-7	breast:	n/a
11	chr15:72567956-72568006	GM12878	blood:	n/a
12	chr15:72567956-72568006	Hela-S3	cervix:	n/a
13	chr15:72567956-72568006	A549	lung:	n/a
14	chr15:72567956-72568006	T-47D	breast:	n/a
15	chr15:72567956-72568006	HIPEpiC	eye:	n/a
16	chr15:72567956-72568006	HCPEpiC	choroid plexus:	n/a
17	chr15:72567956-72568006	GM12892	blood:	n/a
18	chr15:72567956-72568006	HRPEpiC	eye:	n/a
19	chr15:72567956-72568006	IMR90	lung:	fetal
20	chr15:72567956-72568006	HCT-116	colon:	n/a
21	chr15:72567956-72568006	ovcar-3	ovarian:	n/a
22	chr15:72567956-72568006	Jurkat	blood:	n/a
23	chr15:72567956-72568006	PFSK-1	brain:	n/a
24	chr15:72567956-72568006	AG04450	lung:	fetal
25	chr15:72567956-72568006	K562	blood:	n/a
26	chr15:72567956-72568006	ECC-1	luminal epithelium:	n/a
27	chr15:72567956-72568006	BE2_C	brain:	n/a
28	chr15:72567956-72568006	HNPCEpiC	eye:	n/a
29	chr15:72567956-72568006	BJ	skin:	n/a
30	chr15:72567956-72568006	HRCEpiC	kidney:	n/a
31	chr15:72567956-72568006	AG09319	gingival:	n/a
32	chr15:72567956-72568006	AG10803	skin:	n/a
33	chr15:72567956-72568006	U87	brain:	n/a
34	chr15:72567956-72568006	CMK	blood:	n/a
35	chr15:72567956-72568006	NHDF-neo	bronchial:	n/a
36	chr15:72567956-72568006	GM06990	blood:	n/a
37	chr15:72567956-72568006	GM19239	blood:	n/a
38	chr15:72567956-72568006	Hepatocyte	liver:	n/a
39	chr15:72567956-72568006	AoSMC	blood vessel:	n/a
40	chr15:72567956-72568006	AG04449	skin:	fetal
41	chr15:72567956-72568006	HEK293	kidney:	embryo
42	chr15:72567956-72568006	NHBE	bronchial:	n/a
43	chr15:72567956-72568006	ProgFib	skin:	n/a
44	chr15:72567956-72568006	SKMC	muscle:	n/a
45	chr15:72567956-72568006	HMEC	breast:	n/a
46	chr15:72567956-72568006	HUVEC	blood vessel:	n/a
47	chr15:72567956-72568006	HAEpiC	amniotic membrane:	n/a
48	chr15:72567956-72568006	HCF	heart:	n/a
49	chr15:72567956-72568006	GM12891	blood:	n/a
50	chr15:72567956-72568006	SK-N-MC	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72565043..72567062-chr15:72568655..72571579,4	K562	blood:
2	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:
3	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
4	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
5	chr15:72518884..72522571-chr15:72567985..72570130,3	K562	blood:
6	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261460	TF binding region
PARP6	TF binding region
ENSG00000261460	CpG island
PARP6	CpG island
ENSG00000067225	chromatin interactions
ENSG00000137817	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141292240	chr15:72567569-72567570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12907084	chr15:72567586-72567587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183560977	chr15:72567608-72567609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188840292	chr15:72567687-72567688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12439392	chr15:72567714-72567715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530246098	chr15:72567716-72567717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543787604	chr15:72567768-72567769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28576571	chr15:72567873-72567874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2912231	chr15:72567957-72567958	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs537304836	chr15:72567965-72567966	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552441383	chr15:72568031-72568032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192641130	chr15:72568037-72568038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs8038007	chr15:72568043-72568044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs553602701	chr15:72568045-72568046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557414364	chr15:72568071-72568072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572081406	chr15:72568087-72568088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536061655	chr15:72568142-72568143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554766074	chr15:72568190-72568191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184634491	chr15:72568201-72568202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186826840	chr15:72568223-72568224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113153485	chr15:72568238-72568239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55835745	chr15:72568258-72568259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12911785	chr15:72568267-72568268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12911647	chr15:72568268-72568269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12912956	chr15:72568275-72568276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58583806	chr15:72568286-72568287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs57248850	chr15:72568315-72568316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58436151	chr15:72568316-72568317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56364406	chr15:72568323-72568324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113488243	chr15:72568334-72568335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74466031	chr15:72568363-72568364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531004377	chr15:72568364-72568365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56338312	chr15:72568377-72568378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113578567	chr15:72568382-72568383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191253550	chr15:72568411-72568412	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs184819214	chr15:72568412-72568413	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs189727172	chr15:72568419-72568420	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs12324286	chr15:72568430-72568431	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
39	rs181770445	chr15:72568481-72568482	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs376979894	chr15:72568495-72568496	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs2912230	chr15:72568614-72568615	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569895079	chr15:72568643-72568644	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs537226186	chr15:72568648-72568649	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs558906319	chr15:72568764-72568765	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs557782968	chr15:72568912-72568913	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs577037243	chr15:72568989-72568990	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs73438466	chr15:72569114-72569115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553290074	chr15:72569227-72569228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79591820	chr15:72569232-72569233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570478869	chr15:72569233-72569234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72565600-72569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:72565800-72568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:72566000-72567600	Weak transcription	HSMM	muscle
5	chr15:72566000-72567800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:72566000-72568600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:72566000-72568800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:72566000-72571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
10	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
11	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
14	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
16	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:72566200-72577000	Weak transcription	Ovary	ovary
19	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
20	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood
22	chr15:72566400-72573600	Weak transcription	K562	blood
23	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:72567400-72567800	Enhancers	Fetal Muscle Leg	muscle
25	chr15:72567400-72569000	Enhancers	HSMMtube	muscle
26	chr15:72567600-72569200	Enhancers	HSMM	muscle
27	chr15:72567800-72568800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:72568400-72569200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr15:72568600-72569000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:72568600-72569000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:72568800-72569000	Enhancers	NHDF-Ad	bronchial
33	chr15:72569000-72576800	Weak transcription	HSMMtube	muscle
34	chr15:72569200-72574000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links