Variant report

Variant	rs4998667
Chromosome Location	chr10:116346194-116346195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11196778	0.82[AMR][1000 genomes]
rs12413487	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2483538	0.83[EUR][1000 genomes]
rs2483549	0.81[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2483560	0.82[EUR][1000 genomes]
rs2483563	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2483568	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483581	0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483583	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497663	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497733	0.81[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2497743	0.82[EUR][1000 genomes]
rs2497747	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497748	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497749	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58938015	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72826986	0.82[AMR][1000 genomes]
rs72826987	0.82[AMR][1000 genomes]
rs72829115	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913199	0.90[GIH][hapmap];0.90[TSI][hapmap]
rs9421186	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9421190	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs985273	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4998667	ABLIM1	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116323400-116352000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:116323800-116352000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:116335400-116351600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:116336800-116359800	Weak transcription	Lung	lung
5	chr10:116336800-116360000	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:116337000-116360200	Weak transcription	Esophagus	oesophagus
7	chr10:116337400-116352800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:116337600-116353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:116337800-116350000	Weak transcription	Liver	Liver
10	chr10:116337800-116362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:116341400-116356800	Weak transcription	Brain Anterior Caudate	brain
12	chr10:116342200-116359800	Weak transcription	Adipose Nuclei	Adipose
13	chr10:116343200-116346400	Enhancers	Fetal Heart	heart
14	chr10:116343800-116352000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:116345000-116349800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:116345000-116382400	Weak transcription	HSMM	muscle
17	chr10:116345200-116346200	Genic enhancers	Left Ventricle	heart
18	chr10:116345200-116346200	Enhancers	Right Ventricle	heart
19	chr10:116345200-116346600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr10:116345600-116346200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:116345800-116364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:116346000-116352200	Weak transcription	HSMMtube	muscle
23	chr10:116346000-116352600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:116346000-116356000	Weak transcription	Right Atrium	heart

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