Variant report

Variant	rs2264051
Chromosome Location	chr15:43750871-43750872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43750262-43763629..15:43792489-43802874	K562	blood:
2	15:43750262-43763629..15:43802874-43806906	K562	blood:
3	15:43750262-43763629..15:44034348-44042259	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000166963	Chromatin interaction
ENSG00000205771	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000167004	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12438668	1.00[AMR][1000 genomes]
rs1814540	1.00[EUR][1000 genomes]
rs2245161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247734	1.00[EUR][1000 genomes]
rs2249948	1.00[EUR][1000 genomes]
rs2264048	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2444031	1.00[EUR][1000 genomes]
rs2444248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2601019	1.00[AMR][1000 genomes]
rs28370962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs492046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs509037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509197	1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	1.00[EUR][1000 genomes]
rs558010	1.00[EUR][1000 genomes]
rs559805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs656473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs689735	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs690262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74009133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs933942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
2	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
4	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43731800-43752000	Weak transcription	Pancreas	Pancrea
6	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:43739600-43761600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:43743000-43755000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:43743000-43757000	Strong transcription	Fetal Stomach	stomach
12	chr15:43743200-43753600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:43743600-43755200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:43743600-43763400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr15:43743800-43766800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:43743800-43770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:43744000-43760800	Strong transcription	Fetal Intestine Small	intestine
19	chr15:43744000-43762600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:43744000-43770600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:43744000-43770600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:43744200-43760400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:43746200-43753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:43746200-43754800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:43746400-43751000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:43746400-43755800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:43746600-43753000	Strong transcription	Brain Germinal Matrix	brain
33	chr15:43746600-43753400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:43746600-43754800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:43746800-43751600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr15:43747000-43752600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:43747000-43754000	Strong transcription	Thymus	Thymus
39	chr15:43747000-43755600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:43747200-43751000	Strong transcription	Placenta	Placenta
41	chr15:43747200-43753600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:43747400-43751000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:43747400-43751000	Strong transcription	Osteobl	bone
44	chr15:43747600-43751200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr15:43747600-43756000	Weak transcription	Right Atrium	heart
46	chr15:43747600-43756400	Strong transcription	Fetal Intestine Large	intestine
47	chr15:43747800-43751000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:43747800-43751600	Strong transcription	Primary T cells from cord blood	blood
49	chr15:43747800-43751600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:43747800-43751600	Strong transcription	Left Ventricle	heart

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