Variant report

Variant	rs2377596
Chromosome Location	chr10:49856467-49856468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49854108..49857503-chr10:49858477..49860775,4	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10776632	0.86[AMR][1000 genomes]
rs10857613	0.80[AMR][1000 genomes]
rs11101416	0.87[ASN][1000 genomes]
rs12257645	0.90[ASN][1000 genomes]
rs1822861	0.86[AMR][1000 genomes]
rs2377522	0.82[EUR][1000 genomes]
rs2377523	0.81[EUR][1000 genomes]
rs2377595	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2377612	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2377613	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2377614	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2377615	0.90[ASN][1000 genomes]
rs2377616	0.90[ASN][1000 genomes]
rs3910909	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3910910	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3910911	0.82[EUR][1000 genomes]
rs4240515	0.81[ASN][1000 genomes]
rs4373841	0.90[ASN][1000 genomes]
rs4375365	0.85[ASN][1000 genomes]
rs4525142	0.82[ASN][1000 genomes]
rs4562728	0.97[ASN][1000 genomes]
rs4838428	0.81[AMR][1000 genomes]
rs4838429	0.82[EUR][1000 genomes]
rs7087882	0.90[ASN][1000 genomes]
rs7087885	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2377596	ARHGAP22	cis	Whole Blood	GTEx
rs2377596	ARHGAP22	cis	Artery Tibial	GTEx
rs2377596	ARHGAP22	cis	Artery Aorta	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49842000-49859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:49843400-49862600	Weak transcription	NHLF	lung
3	chr10:49844000-49863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49846600-49856800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:49847800-49859600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr10:49847800-49859600	Weak transcription	HSMM	muscle
7	chr10:49848000-49861600	Weak transcription	Osteobl	bone
8	chr10:49850600-49863400	Weak transcription	Pancreas	Pancrea
9	chr10:49852200-49862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:49853000-49863400	Weak transcription	Right Atrium	heart
11	chr10:49853400-49858800	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:49853800-49863400	Weak transcription	Aorta	Aorta
13	chr10:49854200-49863400	Weak transcription	Brain Angular Gyrus	brain
14	chr10:49854800-49859400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:49855000-49857600	Weak transcription	Right Ventricle	heart
16	chr10:49855000-49862600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:49856200-49863200	Weak transcription	Spleen	Spleen
18	chr10:49856400-49857600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:49856400-49857800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr10:49856400-49858000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:49856400-49859200	Weak transcription	Brain Substantia Nigra	brain

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