Variant report

Variant	rs2192019
Chromosome Location	chr7:122357805-122357806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1120019	1.00[ASW][hapmap]
rs1860858	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs1860860	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2058444	1.00[YRI][hapmap]
rs2192021	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2215666	1.00[YRI][hapmap]
rs2215667	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2430026	1.00[ASW][hapmap]
rs2471179	1.00[YRI][hapmap]
rs2471201	1.00[ASW][hapmap]
rs6466835	1.00[YRI][hapmap]
rs6466837	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944692	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6972849	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6978244	1.00[YRI][hapmap]
rs763877	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7788040	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7792080	1.00[YRI][hapmap]

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	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv817238	chr7:122325864-122371594	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2192019	APOBEC3B	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122336600-122359000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:122357000-122359200	Weak transcription	Left Ventricle	heart

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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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