Variant report

Variant	rs842817
Chromosome Location	chr1:192909413-192909414
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1770925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842790	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842804	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr1:192900600-192918600	Weak transcription	Psoas Muscle	Psoas
2	chr1:192902000-192920800	Weak transcription	Aorta	Aorta
3	chr1:192903400-192912600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:192905600-192912200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:192908400-192909600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:192908600-192909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:192908800-192910000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:192908800-192921000	Weak transcription	NHEK	skin
9	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:192909400-192910000	Enhancers	Duodenum Mucosa	Duodenum

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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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