Variant report

Variant	rs10048697
Chromosome Location	chr2:210979455-210979456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1990513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2192323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2887881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58282165	0.82[AFR][1000 genomes]
rs58931716	0.82[AFR][1000 genomes]
rs6435553	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063910	0.82[AFR][1000 genomes]
rs73063916	0.82[AFR][1000 genomes]
rs73063929	0.82[AFR][1000 genomes]
rs73063945	0.82[AFR][1000 genomes]
rs73063963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065813	1.00[AMR][1000 genomes]
rs73065817	1.00[AMR][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
2	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
3	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
5	chr2:210953400-210980800	Weak transcription	Gastric	stomach
6	chr2:210953600-210980600	Weak transcription	Left Ventricle	heart
7	chr2:210956000-210990200	Weak transcription	HSMMtube	muscle
8	chr2:210960800-210980600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:210963000-210980800	Weak transcription	Lung	lung
10	chr2:210963400-210995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:210965000-210980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:210965000-211009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:210965200-210980800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:210966800-210980600	Weak transcription	Liver	Liver
15	chr2:210968400-210982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:210973800-210980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:210974200-210980600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:210974600-210980800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:210975200-210980400	Weak transcription	Stomach Mucosa	stomach
20	chr2:210975600-210980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:210975600-210983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:210976400-210991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:210977000-210979800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:210977000-210988800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:210977200-210982400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr2:210977600-210980400	Weak transcription	Thymus	Thymus
27	chr2:210977800-210980600	Weak transcription	Ovary	ovary
28	chr2:210977800-210980800	Weak transcription	Spleen	Spleen
29	chr2:210978000-210980600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:210978000-210980600	Weak transcription	Aorta	Aorta
31	chr2:210978000-211010600	Weak transcription	Small Intestine	intestine
32	chr2:210978200-211009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:210978800-210980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:210979000-210980600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:210979200-210980200	Weak transcription	Primary B cells from cord blood	blood
36	chr2:210979200-210980200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:210979200-210980200	Weak transcription	Fetal Thymus	thymus
38	chr2:210979200-210980400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:210979200-210980400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:210979200-210980400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:210979200-210981600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:210979200-211005000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:210979400-210980200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:210979400-210981400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:210979400-210987800	Weak transcription	Adipose Nuclei	Adipose

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