Variant report

Variant	rs2079429
Chromosome Location	chr22:31470035-31470036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11089488	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11703478	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12330010	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12484046	0.86[EUR][1000 genomes]
rs13054770	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1558023	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35657209	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35685997	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820934	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7284108	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7284757	0.80[EUR][1000 genomes]
rs7285617	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs737930	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135353	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9619163	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9621173	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9621178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621184	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9621185	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465400-31471600	Weak transcription	Fetal Intestine Large	intestine
2	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:31466200-31471800	Weak transcription	Osteobl	bone
4	chr22:31466200-31472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:31466400-31471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:31466400-31471800	Weak transcription	NHEK	skin
7	chr22:31467800-31471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:31468000-31471800	Weak transcription	Right Atrium	heart
9	chr22:31469800-31472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
12	chr22:31470000-31470200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:31470000-31470200	Enhancers	Spleen	Spleen
14	chr22:31470000-31471400	Weak transcription	Adipose Nuclei	Adipose

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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