Variant report

Variant	rs1253944
Chromosome Location	chr10:44912265-44912266
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr10:44911964-44912428	HL-60	blood:	n/a	chr10:44912170-44912179
2	FOXA1	chr10:44912093-44912443	T-47D	breast:	n/a	n/a
3	SPI1	chr10:44912042-44912275	GM12891	blood:	n/a	chr10:44912170-44912179
4	FOXA1	chr10:44912245-44912448	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000214089	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10900041	0.87[EUR][1000 genomes]
rs10900044	0.84[EUR][1000 genomes]
rs10900045	0.86[EUR][1000 genomes]
rs11239049	0.83[ASN][1000 genomes]
rs11239065	0.87[EUR][1000 genomes]
rs1147920	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1147922	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1147925	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1147927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1147933	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1147934	0.90[EUR][1000 genomes]
rs1147937	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1147938	0.90[EUR][1000 genomes]
rs1147939	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1147958	0.85[EUR][1000 genomes]
rs1147960	0.86[EUR][1000 genomes]
rs1147963	0.85[EUR][1000 genomes]
rs1147965	0.85[EUR][1000 genomes]
rs1253711	0.85[EUR][1000 genomes]
rs1253712	0.85[EUR][1000 genomes]
rs1253725	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1253727	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1253737	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1253738	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1253740	0.87[EUR][1000 genomes]
rs1253741	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1253744	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1253746	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1253748	0.89[EUR][1000 genomes]
rs1270503	0.89[EUR][1000 genomes]
rs1334315	0.86[EUR][1000 genomes]
rs1413517	0.87[EUR][1000 genomes]
rs1413518	0.86[EUR][1000 genomes]
rs1573237	0.86[EUR][1000 genomes]
rs1631775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1779360	0.90[EUR][1000 genomes]
rs1779361	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2785120	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2785121	0.88[EUR][1000 genomes]
rs4948628	0.88[EUR][1000 genomes]
rs4948629	0.87[EUR][1000 genomes]
rs883366	0.86[EUR][1000 genomes]
rs883367	0.86[EUR][1000 genomes]
rs915084	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895101	chr10:44909081-45007131	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44907000-44918400	Weak transcription	Right Atrium	heart
2	chr10:44911200-44912600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:44911400-44913000	Enhancers	Adipose Nuclei	Adipose
4	chr10:44911400-44913000	Enhancers	Colon Smooth Muscle	Colon
5	chr10:44911400-44913200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:44911600-44912400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:44911600-44912400	Enhancers	Brain Germinal Matrix	brain
8	chr10:44911600-44913000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:44911600-44913000	Enhancers	Brain Hippocampus Middle	brain
10	chr10:44911600-44913000	Enhancers	Fetal Lung	lung
11	chr10:44911600-44913000	Enhancers	Fetal Stomach	stomach
12	chr10:44911600-44913200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:44912000-44912600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:44912000-44912600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:44912000-44912800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:44912000-44912800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr10:44912000-44913400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:44912000-44913400	Enhancers	Ovary	ovary
19	chr10:44912200-44912800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:44912200-44912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:44912200-44912800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:44912200-44919800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links