Variant report

Variant	rs34469004
Chromosome Location	chr2:173729696-173729697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17740794	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754764	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs3769286	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3769292	0.93[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs3769293	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156353	1.00[ASN][1000 genomes]
rs56312615	1.00[ASN][1000 genomes]
rs58541680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906197	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908203	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581330	0.86[CEU][hapmap]
rs956752	0.93[CEU][hapmap];1.00[TSI][hapmap];0.81[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173726000-173734400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:173726200-173734400	Weak transcription	NHEK	skin
3	chr2:173726200-173734600	Weak transcription	HUVEC	blood vessel
4	chr2:173726800-173753600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:173727800-173733400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:173729000-173730000	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:173729000-173730000	Enhancers	Gastric	stomach
8	chr2:173729000-173735000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:173729200-173737000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:173729600-173733400	Weak transcription	Fetal Intestine Large	intestine

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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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