Variant report

Variant	rs12171034
Chromosome Location	chr22:28439226-28439227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs138631	0.82[ASN][1000 genomes]
rs138638	0.87[ASN][1000 genomes]
rs138650	0.91[ASN][1000 genomes]
rs138675	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs138683	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs138685	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1548235	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2038158	0.81[ASN][1000 genomes]
rs2092054	0.84[ASN][1000 genomes]
rs3747141	0.83[ASN][1000 genomes]
rs4140571	0.91[ASN][1000 genomes]
rs470100	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs470105	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7625	0.85[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 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	chr22:28427400-28442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:28429600-28442200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:28431200-28449600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:28431200-28459600	Weak transcription	Aorta	Aorta
5	chr22:28431600-28439400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:28431600-28442600	Weak transcription	Adipose Nuclei	Adipose
7	chr22:28431600-28442800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28431600-28443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:28431600-28443200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:28431600-28447600	Weak transcription	Fetal Brain Female	brain
11	chr22:28431800-28444200	Weak transcription	Thymus	Thymus
12	chr22:28432000-28447600	Weak transcription	Fetal Brain Male	brain
13	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
14	chr22:28432200-28441800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:28432200-28442200	Weak transcription	Dnd41	blood
16	chr22:28432200-28443000	Weak transcription	Fetal Intestine Small	intestine
17	chr22:28438600-28439400	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:28438800-28439800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:28438800-28439800	Enhancers	Fetal Stomach	stomach
20	chr22:28438800-28440000	Enhancers	Fetal Heart	heart
21	chr22:28439000-28439400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:28439200-28439800	Enhancers	Fetal Muscle Leg	muscle

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