Variant report

Variant	rs2223370
Chromosome Location	chr22:28669155-28669156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1303845	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134172	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134179	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134180	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134188	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134196	0.97[ASN][1000 genomes]
rs134489	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134500	0.90[EUR][1000 genomes]
rs134526	0.83[EUR][1000 genomes]
rs4822952	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs715517	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7284814	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8140229	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
3	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:28659400-28671200	Weak transcription	Fetal Lung	lung
5	chr22:28662800-28671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:28662800-28671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:28663000-28671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:28664400-28671800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:28664400-28674800	Weak transcription	NHDF-Ad	bronchial
10	chr22:28665200-28671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:28665600-28677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:28668800-28669200	Enhancers	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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