Variant report

Variant	rs12088567
Chromosome Location	chr1:97673183-97673184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11165808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1514496	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1709411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4489611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67908389	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67915441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965876	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs828056	0.80[AFR][1000 genomes]
rs9727438	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:97658800-97695600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:97659000-97697000	Weak transcription	Liver	Liver
3	chr1:97659400-97678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:97659800-97696000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:97660600-97698600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:97663600-97698600	Weak transcription	Primary T cells from cord blood	blood
7	chr1:97666600-97697400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:97668800-97674000	Weak transcription	Stomach Mucosa	stomach
9	chr1:97670400-97675600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:97672000-97678600	Weak transcription	Monocytes-CD14+_RO01746	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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