Variant report

Variant	rs627721
Chromosome Location	chr11:73346421-73346422
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12293194	1.00[AMR][1000 genomes]
rs1621654	1.00[AMR][1000 genomes]
rs1670574	1.00[AMR][1000 genomes]
rs1976913	1.00[AMR][1000 genomes]
rs2511273	1.00[AMR][1000 genomes]
rs2511275	1.00[AMR][1000 genomes]
rs4551800	1.00[AMR][1000 genomes]
rs594814	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs599116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610280	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs641423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs652229	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950472	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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr11:73344200-73346800	Enhancers	Primary T cells from cord blood	blood
2	chr11:73346000-73347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:73346000-73351400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:73346200-73351400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:73346200-73351400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73346400-73347400	Weak transcription	Placenta	Placenta
7	chr11:73346400-73350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:73346400-73350400	Weak transcription	Fetal Thymus	thymus

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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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