Variant report

Variant	rs74012294
Chromosome Location	chr15:41750448-41750449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55882121	0.91[AFR][1000 genomes]
rs56145951	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56938279	0.87[AFR][1000 genomes]
rs58148245	0.84[AFR][1000 genomes]
rs60753819	0.81[AFR][1000 genomes]
rs7167144	0.91[AFR][1000 genomes]
rs7168910	0.94[AFR][1000 genomes]
rs7171744	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012285	0.83[AFR][1000 genomes]
rs74012293	0.96[AFR][1000 genomes]
rs74012298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027761	0.81[AFR][1000 genomes]
rs8037253	0.91[AFR][1000 genomes]
rs8039556	0.96[AFR][1000 genomes]
rs8040920	0.96[AFR][1000 genomes]

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	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
3	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41711600-41759000	Weak transcription	Fetal Heart	heart
2	chr15:41719000-41765800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:41722000-41768400	Weak transcription	Small Intestine	intestine
4	chr15:41724200-41777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:41729200-41773000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:41729400-41756200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:41730000-41768400	Weak transcription	Psoas Muscle	Psoas
8	chr15:41730800-41769000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:41734200-41758800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:41743200-41751600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:41743800-41751000	Strong transcription	Primary T cells from cord blood	blood
12	chr15:41743800-41751600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:41743800-41751600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr15:41743800-41751600	Strong transcription	Fetal Muscle Leg	muscle
15	chr15:41743800-41751800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:41743800-41752000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:41743800-41762200	Weak transcription	Stomach Mucosa	stomach
18	chr15:41744000-41771800	Strong transcription	Fetal Intestine Small	intestine
19	chr15:41744200-41751600	Strong transcription	Fetal Intestine Large	intestine
20	chr15:41744200-41767400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:41744400-41751600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:41744600-41752400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:41744600-41752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:41744800-41751600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:41744800-41751600	Strong transcription	Fetal Stomach	stomach
26	chr15:41745000-41751600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:41745000-41751600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:41745000-41751800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:41745000-41752000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr15:41745200-41751000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:41745200-41751400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:41745200-41751600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:41745200-41751600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:41745200-41751600	Strong transcription	Fetal Thymus	thymus
35	chr15:41745200-41752200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr15:41745200-41752800	Strong transcription	Brain Germinal Matrix	brain
37	chr15:41745200-41766800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:41745200-41775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:41745800-41754400	Weak transcription	Brain Angular Gyrus	brain
40	chr15:41745800-41763400	Weak transcription	Pancreas	Pancrea
41	chr15:41747800-41751600	Strong transcription	Fetal Brain Female	brain
42	chr15:41748000-41761000	Weak transcription	A549	lung
43	chr15:41748400-41751600	Strong transcription	Thymus	Thymus
44	chr15:41748600-41756000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:41748800-41751400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:41749000-41750800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:41749200-41751400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:41749200-41751600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:41749200-41751600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:41749200-41753000	Strong transcription	Monocytes-CD14+_RO01746	blood

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