Variant report

Variant	rs6488340
Chromosome Location	chr12:7635793-7635794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6488352	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488388	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488394	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301572	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7488222	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954492	0.88[EUR][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	nsv557269	chr12:7623724-7691134	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7622200-7637600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:7630000-7649400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:7630200-7649200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:7632000-7638600	Weak transcription	Spleen	Spleen
5	chr12:7633000-7636000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:7635600-7636200	Enhancers	Liver	Liver

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

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