Variant report

Variant	esv3330399
Chromosome Location	chr15:92665269-92665820
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	JUND	chr15:92665522-92665777	HepG2	liver:	n/a	chr15:92665658-92665669
2	ZNF143	chr15:92665620-92665887	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92663926..92666705-chr15:92668588..92670209,2	MCF-7	breast:

Variant related genes	Relation type
SLCO3A1	TF binding region
ENSG00000176463	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146196321	chr15:92665273-92665274	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12148223	chr15:92665283-92665284	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368325687	chr15:92665285-92665286	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372309522	chr15:92665286-92665287	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547337877	chr15:92665307-92665308	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75455381	chr15:92665358-92665359	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139072759	chr15:92665382-92665383	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557377402	chr15:92665427-92665428	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575623441	chr15:92665441-92665442	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143936744	chr15:92665458-92665459	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117746202	chr15:92665459-92665460	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73540481	chr15:92665504-92665505	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536734187	chr15:92665524-92665525	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs556027665	chr15:92665526-92665527	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs77662952	chr15:92665527-92665528	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573524721	chr15:92665610-92665611	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542381342	chr15:92665648-92665649	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369325147	chr15:92665654-92665655	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552861035	chr15:92665691-92665692	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550378846	chr15:92665693-92665694	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115303985	chr15:92665701-92665702	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11638063	chr15:92665728-92665729	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186335660	chr15:92665735-92665736	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114507574	chr15:92665742-92665743	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11632973	chr15:92665765-92665766	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561336735	chr15:92665766-92665767	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11632723	chr15:92665774-92665775	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs114748948	chr15:92665793-92665794	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92643800-92676000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:92645000-92679800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:92645200-92705600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:92648200-92692600	Weak transcription	NHLF	lung
5	chr15:92649000-92671400	Weak transcription	Colonic Mucosa	Colon
6	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:92655600-92667400	Weak transcription	Fetal Brain Male	brain
8	chr15:92656000-92665400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:92657000-92690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:92660600-92678600	Weak transcription	Thymus	Thymus
11	chr15:92661000-92667600	Weak transcription	Fetal Brain Female	brain
12	chr15:92661000-92670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:92661000-92703600	Weak transcription	Small Intestine	intestine
14	chr15:92661400-92665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:92662000-92665400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:92662000-92665600	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:92662000-92667200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:92662000-92667800	Weak transcription	Brain Germinal Matrix	brain
19	chr15:92662200-92667000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:92662200-92667000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:92662200-92673400	Weak transcription	HMEC	breast
22	chr15:92662200-92673800	Weak transcription	NHEK	skin
23	chr15:92662400-92667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:92662800-92666800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:92663000-92677200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:92663200-92670200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:92663200-92671000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr15:92663400-92665400	Weak transcription	A549	lung
29	chr15:92663400-92666000	Strong transcription	Primary T cells from cord blood	blood
30	chr15:92663400-92672800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:92663400-92677600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:92663400-92679200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:92663400-92679400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:92663600-92665600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr15:92663600-92665600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:92663600-92666000	Strong transcription	Adipose Nuclei	Adipose
37	chr15:92663600-92666000	Strong transcription	Brain Hippocampus Middle	brain
38	chr15:92663600-92666400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr15:92663600-92676200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:92663800-92667200	Weak transcription	Right Atrium	heart
41	chr15:92664000-92665400	Strong transcription	Left Ventricle	heart
42	chr15:92664000-92665400	Strong transcription	Ovary	ovary
43	chr15:92664000-92666000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:92664000-92667000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:92664000-92670000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr15:92664000-92707000	Weak transcription	Liver	Liver
47	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
48	chr15:92664200-92665800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:92664200-92665800	Strong transcription	Brain Anterior Caudate	brain
50	chr15:92664200-92665800	Strong transcription	Duodenum Mucosa	Duodenum

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