Variant report

Variant	rs12093843
Chromosome Location	chr1:67113518-67113519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67111893..67113546-chr1:67120474..67122903,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10789211	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10889638	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11208929	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11208930	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11208937	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12021913	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12402181	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1359461	0.84[AFR][1000 genomes]
rs1925342	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588209	0.83[AMR][1000 genomes]
rs6588214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686606	0.80[EUR][1000 genomes]
rs6701907	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72918447	0.83[AMR][1000 genomes]
rs7526812	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7551301	0.83[AMR][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12093843	SGIP1	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67088400-67114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
3	chr1:67091200-67128000	Weak transcription	NH-A	brain
4	chr1:67092000-67117200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:67092200-67114200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:67099400-67115600	Weak transcription	Fetal Lung	lung
7	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
8	chr1:67101200-67113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:67102800-67120200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:67106800-67115800	Weak transcription	Fetal Brain Male	brain
12	chr1:67107200-67114200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:67108000-67136200	Weak transcription	Fetal Brain Female	brain
14	chr1:67109000-67117800	Weak transcription	Osteobl	bone
15	chr1:67109200-67120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:67109600-67113600	Weak transcription	NHLF	lung
18	chr1:67109600-67134200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:67110200-67116400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:67110200-67118800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:67110800-67114200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:67110800-67118400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:67110800-67134400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:67111000-67115200	Weak transcription	NHDF-Ad	bronchial
26	chr1:67111000-67120400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:67111000-67135200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:67111800-67118200	Weak transcription	Aorta	Aorta
30	chr1:67112800-67113800	Enhancers	Small Intestine	intestine
31	chr1:67112800-67114200	Strong transcription	Brain Hippocampus Middle	brain
32	chr1:67112800-67114200	Strong transcription	Stomach Smooth Muscle	stomach

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