Variant report

Variant	esv3424045
Chromosome Location	chr15:43309613-43310141
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	chr15:43309865-43309930	Kidney_OC	kidney:	n/a	n/a

Variant related genes	Relation type
UBR1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542585785	chr15:43309658-43309659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77619714	chr15:43309668-43309669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531273106	chr15:43309677-43309678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527285024	chr15:43309689-43309690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534506842	chr15:43309715-43309716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76476161	chr15:43309742-43309743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36054626	chr15:43309765-43309766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34209024	chr15:43309790-43309791	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533080286	chr15:43309817-43309818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112882183	chr15:43309889-43309890	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187809103	chr15:43309908-43309909	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs62020739	chr15:43309921-43309922	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527261640	chr15:43309934-43309935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7497930	chr15:43309968-43309969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191965105	chr15:43309999-43310000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140878686	chr15:43310061-43310062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11630595	chr15:43310121-43310122	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs182890731	chr15:43310141-43310142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
3	chr15:43267200-43323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:43269000-43312800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:43269800-43314800	Weak transcription	Fetal Brain Male	brain
7	chr15:43269800-43335200	Weak transcription	Small Intestine	intestine
8	chr15:43287400-43346000	Weak transcription	A549	lung
9	chr15:43292000-43316000	Weak transcription	Fetal Heart	heart
10	chr15:43296200-43312800	Weak transcription	HMEC	breast
11	chr15:43297400-43309800	Strong transcription	Fetal Muscle Leg	muscle
12	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:43298600-43346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:43298800-43346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:43299000-43312800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:43299400-43346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:43299600-43313400	Weak transcription	NHDF-Ad	bronchial
18	chr15:43300800-43312400	Weak transcription	Brain Angular Gyrus	brain
19	chr15:43301400-43313400	Weak transcription	K562	blood
20	chr15:43301400-43314800	Weak transcription	HepG2	liver
21	chr15:43301600-43312400	Weak transcription	Brain Substantia Nigra	brain
22	chr15:43301600-43321400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:43301800-43310200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:43301800-43311000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:43301800-43312200	Weak transcription	Right Ventricle	heart
26	chr15:43301800-43318800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:43301800-43343800	Weak transcription	Psoas Muscle	Psoas
28	chr15:43301800-43345800	Weak transcription	Colonic Mucosa	Colon
29	chr15:43301800-43345800	Weak transcription	Pancreas	Pancrea
30	chr15:43301800-43385800	Weak transcription	Gastric	stomach
31	chr15:43302000-43309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:43302000-43310400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:43302000-43310800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:43302000-43312600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:43302000-43312800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:43302200-43312000	Weak transcription	HSMM	muscle
37	chr15:43302200-43312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:43302800-43312600	Weak transcription	Fetal Kidney	kidney
39	chr15:43303400-43312600	Weak transcription	Ovary	ovary
40	chr15:43303400-43316000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:43303400-43345800	Weak transcription	Aorta	Aorta
42	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
43	chr15:43304000-43312000	Weak transcription	Fetal Thymus	thymus
44	chr15:43304600-43318200	Strong transcription	Placenta	Placenta
45	chr15:43305600-43318600	Strong transcription	Fetal Brain Female	brain
46	chr15:43306000-43312600	Weak transcription	Brain Anterior Caudate	brain
47	chr15:43306000-43312600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:43306000-43313000	Strong transcription	Fetal Stomach	stomach
49	chr15:43306400-43309800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:43306800-43331000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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