Variant report

Variant	esv3494908
Chromosome Location	chr15:72570698-72576646
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	ATF3	chr15:72574154-72574368	K562	blood:	n/a	n/a
2	BATF	chr15:72574033-72574425	GM12878	blood:	n/a	chr15:72574265-72574276
3	BHLHE40	chr15:72574155-72574397	K562	blood:	n/a	n/a
4	CEBPB	chr15:72573500-72573673	HepG2	liver:	n/a	chr15:72573574-72573585 chr15:72573574-72573585
5	CTCF	chr15:72574240-72574390	GM12872	blood:	n/a	n/a
6	CTCF	chr15:72574562-72574608	GM13976	blood:	n/a	n/a
7	EBF1	chr15:72571092-72571377	GM12878	blood:	n/a	n/a
8	FOS	chr15:72574222-72574364	MCF10A-Er-Src	breast:	n/a	chr15:72574249-72574257 chr15:72574245-72574256 chr15:72574247-72574259
9	FOSL1	chr15:72574159-72574386	K562	blood:	n/a	chr15:72574249-72574257 chr15:72574267-72574278 chr15:72574245-72574256 chr15:72574247-72574258 chr15:72574247-72574259
10	FOSL2	chr15:72574029-72574391	HepG2	liver:	n/a	chr15:72574249-72574257 chr15:72574245-72574256 chr15:72574247-72574259
11	HNF4A	chr15:72573127-72573462	HepG2	liver:	n/a	chr15:72573292-72573304 chr15:72573291-72573304 chr15:72573291-72573306 chr15:72573291-72573304 chr15:72573291-72573306 chr15:72573291-72573306 chr15:72573291-72573306 chr15:72573290-72573305 chr15:72573291-72573306
12	HNF4A	chr15:72573144-72573525	HepG2	liver:	n/a	chr15:72573292-72573304 chr15:72573291-72573304 chr15:72573291-72573306 chr15:72573291-72573304 chr15:72573291-72573306 chr15:72573291-72573306 chr15:72573291-72573306 chr15:72573290-72573305 chr15:72573291-72573306
13	HNF4G	chr15:72573094-72573412	HepG2	liver:	n/a	chr15:72573292-72573304 chr15:72573291-72573304 chr15:72573291-72573306 chr15:72573291-72573304 chr15:72573291-72573306 chr15:72573291-72573306 chr15:72573291-72573306 chr15:72573291-72573306
14	JUN	chr15:72574090-72574439	K562	blood:	n/a	chr15:72574249-72574257 chr15:72574245-72574256 chr15:72574247-72574259
15	JUN	chr15:72574112-72574395	K562	blood:	n/a	chr15:72574249-72574257 chr15:72574245-72574256 chr15:72574247-72574259
16	JUN	chr15:72573954-72574577	K562	blood:	n/a	chr15:72574249-72574257 chr15:72574245-72574256 chr15:72574247-72574259
17	JUND	chr15:72574088-72574431	K562	blood:	n/a	chr15:72574249-72574257 chr15:72574245-72574256 chr15:72574247-72574259
18	MAFK	chr15:72574169-72574391	K562	blood:	n/a	n/a
19	PAX5	chr15:72574033-72574485	GM12878	blood:	n/a	chr15:72574235-72574253 chr15:72574234-72574253
20	PAX5	chr15:72574119-72574357	GM12892	blood:	n/a	chr15:72574235-72574253 chr15:72574234-72574253
21	PAX5	chr15:72573998-72574420	GM12878	blood:	n/a	chr15:72574235-72574253 chr15:72574234-72574253
22	PAX5	chr15:72574067-72574406	GM12878	blood:	n/a	chr15:72574235-72574253 chr15:72574234-72574253
23	POLR2A	chr15:72574859-72574983	GM12878	blood:	n/a	n/a
24	RUNX3	chr15:72574043-72574533	GM12878	blood:	n/a	n/a
25	RUNX3	chr15:72574023-72574457	GM12878	blood:	n/a	n/a
26	STAT3	chr15:72574353-72574378	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72565043..72567062-chr15:72568655..72571579,4	K562	blood:
2	chr15:72565313..72567062-chr15:72569631..72571154,2	K562	blood:
3	chr15:72521272..72525431-chr15:72575824..72579485,5	MCF-7	breast:
4	chr15:72564271..72566801-chr15:72572069..72573786,2	K562	blood:
5	chr15:72575298..72576860-chr15:72578215..72580118,2	K562	blood:
6	chr15:72572263..72574208-chr15:72582105..72583633,2	K562	blood:
7	chr15:72569071..72574436-chr15:72576109..72578773,6	MCF-7	breast:
8	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:

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

Extended variants
information (count: 180 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs568025551	chr15:72570763-72570764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535403088	chr15:72570813-72570814	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529531781	chr15:72570851-72570852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550458981	chr15:72570964-72570965	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs118104080	chr15:72571015-72571016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377147947	chr15:72571046-72571047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560861509	chr15:72571055-72571056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539435458	chr15:72571062-72571063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574899846	chr15:72571121-72571122	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558247709	chr15:72571124-72571125	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573227611	chr15:72571160-72571161	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534407161	chr15:72571180-72571181	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555957010	chr15:72571226-72571227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574274560	chr15:72571296-72571297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531766368	chr15:72571321-72571322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191290668	chr15:72571367-72571368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141298283	chr15:72571387-72571388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182922718	chr15:72571388-72571389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545445477	chr15:72571397-72571398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564213483	chr15:72571404-72571405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528135431	chr15:72571405-72571406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188771443	chr15:72571466-72571467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143267113	chr15:72571557-72571558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199889697	chr15:72571650-72571651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374493775	chr15:72571687-72571688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555592069	chr15:72571706-72571707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145971614	chr15:72571781-72571782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375942957	chr15:72571793-72571794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377071050	chr15:72571832-72571833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529032209	chr15:72571849-72571850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190499894	chr15:72571881-72571882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151252066	chr15:72571889-72571890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533384597	chr15:72571898-72571899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140430736	chr15:72571899-72571900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566965315	chr15:72571910-72571911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2912213	chr15:72571929-72571930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113278555	chr15:72571939-72571940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567883987	chr15:72571945-72571946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370186161	chr15:72571952-72571953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375286466	chr15:72571984-72571985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574221762	chr15:72572075-72572076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556910069	chr15:72572091-72572092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578150988	chr15:72572095-72572096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561507604	chr15:72572127-72572128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545795744	chr15:72572128-72572129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557511376	chr15:72572210-72572211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572796213	chr15:72572214-72572215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183229032	chr15:72572235-72572236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539969032	chr15:72572254-72572255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11631113	chr15:72572303-72572304	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72565800-72572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:72566000-72571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:72566000-72573600	Weak transcription	Brain Anterior Caudate	brain
4	chr15:72566000-72573600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:72566000-72575800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:72566000-72576400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:72566000-72577800	Weak transcription	Fetal Intestine Small	intestine
8	chr15:72566000-72582400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
10	chr15:72566200-72573000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:72566200-72573600	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:72566200-72577000	Weak transcription	Ovary	ovary
13	chr15:72566200-72577600	Weak transcription	Brain Angular Gyrus	brain
14	chr15:72566200-72578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:72566200-72579200	Weak transcription	Primary T cells from cord blood	blood
16	chr15:72566400-72573600	Weak transcription	K562	blood
17	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:72567800-72581400	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:72569000-72576800	Weak transcription	HSMMtube	muscle
20	chr15:72569200-72574000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:72571200-72573600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:72572200-72573600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:72572400-72573800	Enhancers	Adipose Nuclei	Adipose
24	chr15:72572600-72573800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:72572800-72573200	Enhancers	Fetal Intestine Large	intestine
26	chr15:72572800-72573800	Enhancers	Liver	Liver
27	chr15:72572800-72574200	Enhancers	HepG2	liver
28	chr15:72573000-72573200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:72573000-72582600	Weak transcription	Placenta	Placenta
30	chr15:72573200-72575800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
32	chr15:72573400-72573600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:72573400-72582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:72573600-72573800	Enhancers	Brain Anterior Caudate	brain
35	chr15:72573600-72573800	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:72573600-72573800	Enhancers	Brain Hippocampus Middle	brain
37	chr15:72573600-72573800	Enhancers	Brain Substantia Nigra	brain
38	chr15:72573600-72574400	Enhancers	K562	blood
39	chr15:72573600-72578600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:72573800-72574600	Enhancers	GM12878-XiMat	blood
41	chr15:72573800-72575800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:72573800-72578600	Weak transcription	Adipose Nuclei	Adipose
43	chr15:72573800-72595000	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:72573800-72595000	Weak transcription	Brain Substantia Nigra	brain
45	chr15:72573800-72596200	Weak transcription	Liver	Liver
46	chr15:72573800-72597200	Weak transcription	Brain Anterior Caudate	brain
47	chr15:72574000-72574400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr15:72574400-72595000	Weak transcription	Lung	lung
49	chr15:72574600-72575800	Weak transcription	GM12878-XiMat	blood
50	chr15:72574600-72581000	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links