Variant report

Variant	esv17862
Chromosome Location	chr15:100015641-100016286
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	CTCF	chr15:100015860-100016010	HepG2	liver:	n/a	n/a
2	E2F6	chr15:100015266-100015800	H1-hESC	embryonic stem cell:	n/a	chr15:100015518-100015525 chr15:100015517-100015526 chr15:100015518-100015525 chr15:100015514-100015526 chr15:100015518-100015525
3	FOS	chr15:100015927-100016071	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr15:100016174-100017645	SK-N-SH	brain:	n/a	chr15:100017358-100017368 chr15:100016826-100016835
5	GATA3	chr15:100016247-100017529	SK-N-SH	brain:	n/a	chr15:100017358-100017368 chr15:100016826-100016835
6	JUND	chr15:100016159-100017485	SK-N-SH	brain:	n/a	chr15:100017208-100017218 chr15:100016826-100016837 chr15:100017359-100017368 chr15:100016828-100016836 chr15:100017208-100017218 chr15:100016590-100016602 chr15:100016826-100016838 chr15:100017209-100017217 chr15:100016869-100016880 chr15:100017205-100017216
7	MAX	chr15:100015411-100015676	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr15:100016271-100017592	SK-N-SH	brain:	n/a	chr15:100016307-100016335
9	TCF12	chr15:100016263-100017626	SK-N-SH	brain:	n/a	n/a
10	ZNF263	chr15:100015201-100015789	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:99991338..99992840-chr15:100014340..100017006,2	MCF-7	breast:
2	chr15:99969769..99972522-chr15:100015171..100016752,2	MCF-7	breast:
3	chr15:100013320..100017207-chr15:100104527..100106980,4	MCF-7	breast:
4	chr15:100010923..100013098-chr15:100015221..100016776,2	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
ENSG00000259341	chromatin interactions
ENSG00000068305	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73476563	chr15:100015648-100015649	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs76019244	chr15:100015660-100015661	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs12594174	chr15:100015668-100015669	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117223156	chr15:100015706-100015707	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189862193	chr15:100015722-100015723	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537413006	chr15:100015764-100015765	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558888439	chr15:100015785-100015786	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs570888730	chr15:100015813-100015814	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs66994542	chr15:100015834-100015835	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553728165	chr15:100015895-100015896	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561348673	chr15:100015914-100015915	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571860832	chr15:100015959-100015960	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs7172915	chr15:100016039-100016040	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554417139	chr15:100016071-100016072	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575912563	chr15:100016074-100016075	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368992298	chr15:100016088-100016089	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs71149465	chr15:100016095-100016096	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564889103	chr15:100016100-100016101	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181469231	chr15:100016114-100016115	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566198234	chr15:100016148-100016149	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559705579	chr15:100016169-100016170	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs186158509	chr15:100016188-100016189	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548919314	chr15:100016198-100016199	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs570390347	chr15:100016199-100016200	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs531212285	chr15:100016201-100016202	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs7167860	chr15:100016225-100016226	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs189482946	chr15:100016235-100016236	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100008200-100020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:100008400-100016600	Weak transcription	Hela-S3	cervix
3	chr15:100012200-100015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:100012400-100018200	Enhancers	Stomach Mucosa	stomach
5	chr15:100012400-100018600	Enhancers	Spleen	Spleen
6	chr15:100012400-100018800	Enhancers	Right Atrium	heart
7	chr15:100012600-100016000	Weak transcription	Small Intestine	intestine
8	chr15:100012600-100018600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr15:100012600-100019000	Enhancers	Fetal Heart	heart
10	chr15:100012800-100016200	Weak transcription	NH-A	brain
11	chr15:100012800-100018800	Enhancers	Fetal Lung	lung
12	chr15:100013000-100018600	Enhancers	Right Ventricle	heart
13	chr15:100013000-100018800	Enhancers	Fetal Muscle Trunk	muscle
14	chr15:100013000-100019400	Enhancers	Fetal Thymus	thymus
15	chr15:100013200-100019000	Enhancers	Fetal Muscle Leg	muscle
16	chr15:100013600-100016600	Enhancers	Stomach Smooth Muscle	stomach
17	chr15:100013600-100018400	Enhancers	Placenta	Placenta
18	chr15:100013600-100018400	Enhancers	Lung	lung
19	chr15:100013800-100015800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:100013800-100016800	Enhancers	Adipose Nuclei	Adipose
21	chr15:100013800-100017000	Weak transcription	Gastric	stomach
22	chr15:100013800-100018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:100013800-100018200	Enhancers	HMEC	breast
24	chr15:100014000-100016000	Weak transcription	Thymus	Thymus
25	chr15:100014000-100017000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:100014000-100017000	Enhancers	HSMM	muscle
27	chr15:100014000-100018600	Enhancers	HSMMtube	muscle
28	chr15:100014000-100019200	Enhancers	Fetal Stomach	stomach
29	chr15:100014200-100016000	Enhancers	Psoas Muscle	Psoas
30	chr15:100014200-100016800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:100014400-100016400	Enhancers	Esophagus	oesophagus
32	chr15:100014400-100016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:100014400-100017000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:100014400-100017000	Enhancers	NHLF	lung
35	chr15:100014600-100016400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:100014600-100017400	Enhancers	Colonic Mucosa	Colon
37	chr15:100014800-100016200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:100014800-100016200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:100014800-100016600	Weak transcription	GM12878-XiMat	blood
40	chr15:100014800-100016800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr15:100014800-100018800	Enhancers	Left Ventricle	heart
42	chr15:100014800-100020200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:100014800-100026800	Weak transcription	Aorta	Aorta
44	chr15:100015000-100016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:100015200-100015800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:100015200-100016000	Enhancers	Pancreas	Pancrea
47	chr15:100015200-100017400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:100015200-100017600	Weak transcription	Fetal Kidney	kidney
49	chr15:100015200-100018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:100015400-100015800	Enhancers	Brain Anterior Caudate	brain

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