Variant report

Variant	rs7566216
Chromosome Location	chr2:38746456-38746457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12328034	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs13427352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17022876	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17022893	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17022908	1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17022951	0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17022999	0.82[EUR][1000 genomes]
rs2278359	0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58563643	0.82[EUR][1000 genomes]
rs59036182	0.82[EUR][1000 genomes]
rs72907944	0.82[EUR][1000 genomes]
rs72909820	0.82[EUR][1000 genomes]
rs73931608	0.82[EUR][1000 genomes]
rs7581419	0.82[EUR][1000 genomes]
rs7594594	1.00[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:38743000-38749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:38743000-38750000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:38743200-38750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:38743200-38750400	Weak transcription	Aorta	Aorta
5	chr2:38744800-38751600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:38745000-38749400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:38745000-38749400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:38745000-38750000	Weak transcription	K562	blood
9	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:38746400-38746600	Enhancers	Primary mononuclear 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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