Variant report

Variant	rs60154625
Chromosome Location	chr2:48053189-48053190
allele	C/G
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:14)

rs_ID	r²[population]
rs10495947	0.92[EUR][1000 genomes]
rs17036996	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17037002	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17037018	0.93[EUR][1000 genomes]
rs17037021	0.81[AFR][1000 genomes]
rs17037038	0.89[EUR][1000 genomes]
rs2134055	0.84[AFR][1000 genomes]
rs2134056	0.97[EUR][1000 genomes]
rs60866242	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6704872	0.87[EUR][1000 genomes]
rs6714441	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6723441	0.85[EUR][1000 genomes]
rs73929251	0.88[EUR][1000 genomes]
rs7572674	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48017200-48053200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:48021400-48067600	Strong transcription	Dnd41	blood
4	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:48030200-48067600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:48030400-48067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:48030800-48067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:48030800-48067000	Strong transcription	Fetal Thymus	thymus
10	chr2:48031000-48067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:48031000-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:48031000-48067200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:48031200-48053800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:48031200-48065800	Strong transcription	Liver	Liver
15	chr2:48031200-48066800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:48031400-48060600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:48031400-48066800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:48031400-48067000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:48031400-48067800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:48031400-48067800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:48031400-48072600	Weak transcription	Stomach Mucosa	stomach
22	chr2:48032000-48058000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:48032200-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:48032400-48066800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:48032400-48068400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:48033600-48067000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:48033800-48067400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:48036000-48067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:48038000-48061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:48038200-48071400	Weak transcription	Fetal Heart	heart
31	chr2:48038400-48066600	Strong transcription	Adipose Nuclei	Adipose
32	chr2:48038600-48054400	Strong transcription	HepG2	liver
33	chr2:48039800-48059600	Weak transcription	Psoas Muscle	Psoas
34	chr2:48040400-48068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:48042000-48055600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:48042000-48067800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:48043200-48066800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
39	chr2:48043600-48054400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:48043600-48060800	Weak transcription	Esophagus	oesophagus
41	chr2:48043600-48067000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:48044800-48071000	Weak transcription	Fetal Brain Male	brain
43	chr2:48045000-48059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:48045800-48056600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:48045800-48071600	Weak transcription	Aorta	Aorta
46	chr2:48046200-48059000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:48047800-48067400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:48048200-48061800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:48048200-48072400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:48048400-48070000	Weak transcription	Small Intestine	intestine

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