Variant report

Variant	rs5994347
Chromosome Location	chr22:31216054-31216055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13058040	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs136228	0.86[CHB][hapmap]
rs136229	0.81[ASW][hapmap];0.86[CHB][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs136230	0.86[CHB][hapmap];0.80[LWK][hapmap];0.82[MKK][hapmap]
rs361844	0.86[CHB][hapmap]
rs4443	0.86[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs738373	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs738374	0.95[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs738375	0.87[AMR][1000 genomes]
rs8137925	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr22:31199800-31218000	Weak transcription	Gastric	stomach
2	chr22:31201600-31217000	Weak transcription	Brain Anterior Caudate	brain
3	chr22:31203000-31217800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr22:31203600-31217800	Weak transcription	Brain Hippocampus Middle	brain
5	chr22:31205600-31217000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:31206400-31217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:31206800-31218000	Weak transcription	HSMM	muscle
8	chr22:31207000-31218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:31209000-31218000	Weak transcription	A549	lung
10	chr22:31211000-31217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:31213800-31218200	Weak transcription	HSMMtube	muscle
12	chr22:31214600-31216600	Weak transcription	Hela-S3	cervix
13	chr22:31216000-31217000	Weak transcription	NHEK	skin

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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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