Variant report

Variant	rs7309983
Chromosome Location	chr12:68422575-68422576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1035151	1.00[MEX][hapmap]
rs2860600	1.00[MEX][hapmap];0.84[MKK][hapmap]
rs971043	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs971044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68406000-68425200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:68406400-68426000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:68416200-68425400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:68416800-68426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:68421600-68423200	Strong transcription	Primary B cells from cord blood	blood
6	chr12:68422000-68422600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:68422000-68425400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:68422200-68422600	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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