Variant report

Variant	esv3366942
Chromosome Location	chr15:43487375-43487972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43476228..43478017-chr15:43486633..43489547,2	K562	blood:
2	chr15:43486542..43488730-chr15:43494665..43496385,2	K562	blood:
3	chr15:43478839..43481750-chr15:43486043..43488157,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CCNDBP1	hsa-miR-9-5p	chr15:43487727-43487748

Variant related genes	Relation type
ENSG00000166946	chromatin interactions
ENSG00000261687	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563171528	chr15:43487384-43487385	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575954077	chr15:43487386-43487387	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs199560054	chr15:43487462-43487463	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541382070	chr15:43487485-43487486	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561484332	chr15:43487521-43487522	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373043558	chr15:43487535-43487536	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536364729	chr15:43487543-43487544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554604866	chr15:43487638-43487639	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs55802910	chr15:43487698-43487699	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564110298	chr15:43487701-43487702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs16957479	chr15:43487704-43487705	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548457436	chr15:43487705-43487706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147918622	chr15:43487713-43487714	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538283505	chr15:43487720-43487721	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548601280	chr15:43487721-43487722	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34336488	chr15:43487742-43487743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs534272272	chr15:43487744-43487745	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
18	rs141738492	chr15:43487796-43487797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs17778356	chr15:43487810-43487811	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539978570	chr15:43487866-43487867	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:43478800-43494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:43479000-43488600	Weak transcription	Fetal Kidney	kidney
6	chr15:43480200-43489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:43480200-43490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:43480200-43490000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr15:43480200-43490000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:43480200-43490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:43480400-43489800	Strong transcription	Placenta	Placenta
12	chr15:43480400-43490200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:43480400-43491200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:43480400-43491400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:43480600-43489800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:43480600-43490400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:43480800-43489200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:43480800-43489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:43480800-43490200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:43480800-43491400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr15:43481000-43487400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:43481000-43490400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:43481000-43490600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr15:43481200-43488200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:43481200-43489800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:43481200-43490000	Strong transcription	Thymus	Thymus
27	chr15:43481400-43487400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:43481400-43487400	Strong transcription	Colonic Mucosa	Colon
29	chr15:43481400-43487600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:43481400-43489800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:43481400-43489800	Strong transcription	Fetal Thymus	thymus
32	chr15:43481400-43489800	Strong transcription	HSMM	muscle
33	chr15:43481400-43490000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:43481400-43490000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:43481400-43490000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:43481400-43490400	Strong transcription	Brain Anterior Caudate	brain
37	chr15:43481400-43490400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr15:43481400-43490600	Strong transcription	Primary B cells from cord blood	blood
39	chr15:43481400-43491000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:43481600-43488000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr15:43481600-43488200	Strong transcription	Hela-S3	cervix
42	chr15:43481600-43489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:43481600-43490000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:43481600-43490400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:43481600-43490400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:43481800-43489800	Strong transcription	Brain Substantia Nigra	brain
47	chr15:43481800-43490400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:43481800-43490600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:43482000-43490400	Strong transcription	GM12878-XiMat	blood
50	chr15:43482200-43489800	Strong transcription	Colon Smooth Muscle	Colon

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