Variant report

Variant	rs2377614
Chromosome Location	chr10:49860258-49860259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10857616	0.85[ASN][1000 genomes]
rs11101416	0.94[ASN][1000 genomes]
rs12257645	0.96[ASN][1000 genomes]
rs2377595	0.94[ASN][1000 genomes]
rs2377596	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2377612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377615	0.96[ASN][1000 genomes]
rs2377616	0.96[ASN][1000 genomes]
rs4240515	0.87[ASN][1000 genomes]
rs4373841	0.96[ASN][1000 genomes]
rs4375365	0.91[ASN][1000 genomes]
rs4525142	0.88[ASN][1000 genomes]
rs4562728	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7087882	0.96[ASN][1000 genomes]
rs7087885	0.96[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2377614	ARHGAP22	cis	Artery Aorta	GTEx
rs2377614	ARHGAP22	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49843400-49862600	Weak transcription	NHLF	lung
2	chr10:49844000-49863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:49848000-49861600	Weak transcription	Osteobl	bone
4	chr10:49850600-49863400	Weak transcription	Pancreas	Pancrea
5	chr10:49852200-49862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:49853000-49863400	Weak transcription	Right Atrium	heart
7	chr10:49853800-49863400	Weak transcription	Aorta	Aorta
8	chr10:49854200-49863400	Weak transcription	Brain Angular Gyrus	brain
9	chr10:49855000-49862600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49856200-49863200	Weak transcription	Spleen	Spleen
11	chr10:49856600-49862400	Weak transcription	HMEC	breast
12	chr10:49857800-49861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:49859200-49863400	Enhancers	Brain Substantia Nigra	brain
14	chr10:49859400-49860400	Active TSS	Brain Anterior Caudate	brain
15	chr10:49859400-49860400	Active TSS	Brain Cingulate Gyrus	brain
16	chr10:49859400-49863000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:49859600-49860400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr10:49859600-49860400	Enhancers	HSMMtube	muscle
19	chr10:49859600-49860800	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr10:49859600-49861000	Flanking Active TSS	GM12878-XiMat	blood
21	chr10:49859600-49861400	Weak transcription	Lung	lung
22	chr10:49859600-49861800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr10:49859800-49860400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:49859800-49860600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:49859800-49860600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:49859800-49860800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:49859800-49860800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr10:49859800-49861200	Enhancers	Primary B cells from peripheral blood	blood
29	chr10:49860000-49860400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:49860000-49861000	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr10:49860000-49861200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr10:49860000-49862600	Weak transcription	Adipose Nuclei	Adipose
33	chr10:49860200-49860400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr10:49860200-49861400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:49860200-49862400	Weak transcription	HSMM	muscle
36	chr10:49860200-49863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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