Variant report

Variant	esv3410766
Chromosome Location	chr15:52959579-52959707
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	chr15:52954350..52957098-chr15:52957604..52959910,2	K562	blood:
2	chr15:52946056..52948651-chr15:52958978..52960779,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1863512	chr15:52959687-52959688	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186539404	chr15:52959699-52959700	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140209646	chr15:52959706-52959707	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	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
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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:52944200-52965800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:52944400-52969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:52944400-52970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:52944600-52962000	Weak transcription	Aorta	Aorta
6	chr15:52944600-52965000	Strong transcription	Primary B cells from cord blood	blood
7	chr15:52944600-52965400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr15:52944600-52969800	Weak transcription	Fetal Brain Male	brain
9	chr15:52945000-52965400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:52945000-52968600	Weak transcription	HepG2	liver
11	chr15:52945200-52959800	Weak transcription	Dnd41	blood
12	chr15:52945400-52965400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:52945600-52962800	Strong transcription	Placenta	Placenta
14	chr15:52946000-52962000	Weak transcription	Right Ventricle	heart
15	chr15:52946000-52962000	Weak transcription	Spleen	Spleen
16	chr15:52946000-52965200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr15:52946000-52968200	Weak transcription	Fetal Heart	heart
18	chr15:52946000-52968600	Weak transcription	Stomach Mucosa	stomach
19	chr15:52949200-52965400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr15:52949200-52965600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:52949400-52966400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr15:52950000-52959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:52950000-52962000	Weak transcription	NHLF	lung
24	chr15:52950200-52959800	Weak transcription	NHEK	skin
25	chr15:52950400-52965800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:52950400-52965800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:52950400-52969400	Weak transcription	A549	lung
28	chr15:52950800-52960600	Strong transcription	Fetal Lung	lung
29	chr15:52950800-52968400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:52951000-52959800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:52951000-52965600	Strong transcription	Adipose Nuclei	Adipose
32	chr15:52951000-52970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:52951200-52960800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:52952000-52967400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr15:52952000-52968000	Strong transcription	Fetal Thymus	thymus
36	chr15:52952200-52967800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:52952400-52960600	Strong transcription	Fetal Muscle Leg	muscle
38	chr15:52952400-52960600	Strong transcription	HSMMtube	muscle
39	chr15:52952400-52963600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:52952400-52966200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:52952600-52960800	Strong transcription	Primary T cells from cord blood	blood
42	chr15:52952800-52960400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:52953000-52963200	Weak transcription	Psoas Muscle	Psoas
44	chr15:52953200-52965800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr15:52953200-52967800	Weak transcription	Fetal Intestine Small	intestine
46	chr15:52953600-52965000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:52953800-52963000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:52954400-52959600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:52954600-52959800	Weak transcription	Fetal Kidney	kidney
50	chr15:52954800-52962000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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