Variant report

Variant	rs17752630
Chromosome Location	chr8:2112638-2112639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10107796	0.96[EUR][1000 genomes]
rs11990285	0.88[EUR][1000 genomes]
rs17064796	0.90[EUR][1000 genomes]
rs17064804	0.96[EUR][1000 genomes]
rs17064827	0.88[EUR][1000 genomes]
rs17685416	1.00[EUR][1000 genomes]
rs7002435	0.91[EUR][1000 genomes]
rs7846356	0.92[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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
2	chr8:2101000-2118000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2104600-2122200	Weak transcription	Fetal Thymus	thymus
4	chr8:2110200-2113600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:2110200-2113600	Weak transcription	Pancreas	Pancrea
6	chr8:2110200-2116600	Weak transcription	Left Ventricle	heart
7	chr8:2111400-2113000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:2111600-2113600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:2112000-2113600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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