Variant report

Variant	rs10173049
Chromosome Location	chr2:113458900-113458901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113458404..113460724-chr2:113468297..113470571,2	K562	blood:
2	chr2:113442700..113444556-chr2:113457075..113459685,2	MCF-7	breast:
3	chr2:113458059..113460940-chr2:113462365..113464957,4	K562	blood:
4	chr2:113456909..113459689-chr2:113463239..113465215,3	K562	blood:
5	chr2:113446769..113452405-chr2:113453017..113461667,12	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10174076	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1018317	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10201756	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211073	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692751	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2222131	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848291	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848292	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848293	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848294	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848295	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848296	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849106	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849107	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542077	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6542078	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542079	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542080	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542081	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542082	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73955258	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7567215	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10173049	SLC20A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113451800-113462800	Weak transcription	Dnd41	blood
2	chr2:113454800-113460600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:113456000-113460000	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:113456200-113459400	Enhancers	Primary B cells from cord blood	blood
5	chr2:113456400-113460200	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:113456600-113460000	Enhancers	K562	blood
7	chr2:113456800-113459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:113457800-113459600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:113458000-113459000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:113458400-113459000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:113458400-113459000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:113458400-113459800	Enhancers	NHLF	lung
13	chr2:113458600-113459800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:113458600-113460200	Enhancers	GM12878-XiMat	blood
15	chr2:113458600-113463400	Weak transcription	Osteobl	bone
16	chr2:113458600-113464000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:113458800-113459200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:113458800-113459600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113458800-113460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:113458800-113460600	Weak transcription	Fetal Brain Female	brain
21	chr2:113458800-113463400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:113458800-113469000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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