Variant report

Variant	esv3400620
Chromosome Location	chr15:60417378-60417909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:60410507..60412710-chr15:60416339..60419288,2	K562	blood:

Variant related genes	Relation type
ENSG00000259223	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562466078	chr15:60417384-60417385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs8043321	chr15:60417407-60417408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557562264	chr15:60417422-60417423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117172958	chr15:60417519-60417520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112701342	chr15:60417536-60417537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148883705	chr15:60417556-60417557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555065632	chr15:60417557-60417558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576435188	chr15:60417565-60417566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573354427	chr15:60417568-60417569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540947529	chr15:60417575-60417576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545308671	chr15:60417591-60417592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565144778	chr15:60417620-60417621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116435317	chr15:60417634-60417635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527503964	chr15:60417678-60417679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577914114	chr15:60417693-60417694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73431239	chr15:60417720-60417721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76281186	chr15:60417768-60417769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138433987	chr15:60417783-60417784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542812933	chr15:60417797-60417798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561368652	chr15:60417817-60417818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528590151	chr15:60417818-60417819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547065006	chr15:60417865-60417866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76131468	chr15:60417869-60417870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60412600-60419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:60412600-60419400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:60413000-60419400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:60414400-60419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:60414600-60419400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:60415000-60419400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:60416400-60418000	Enhancers	Dnd41	blood
8	chr15:60416600-60417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:60416600-60417400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr15:60416600-60417600	Enhancers	Primary T cells from cord blood	blood
11	chr15:60416600-60419400	Enhancers	GM12878-XiMat	blood
12	chr15:60416800-60417400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr15:60417200-60419000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:60417200-60419200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:60417200-60419400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:60417200-60419400	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:60417400-60418600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:60417400-60419000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr15:60417400-60419200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:60417400-60419200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:60417600-60417800	Enhancers	Esophagus	oesophagus
22	chr15:60417600-60418400	Weak transcription	Primary T cells from cord blood	blood
23	chr15:60417800-60418000	Enhancers	Fetal Stomach	stomach
24	chr15:60417800-60419400	Weak transcription	Esophagus	oesophagus

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