Variant report

Variant	rs72998111
Chromosome Location	chr1:114465285-114465286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12568502	1.00[AFR][1000 genomes]
rs60565055	1.00[AMR][1000 genomes]
rs72988578	1.00[AMR][1000 genomes]
rs72988587	1.00[AMR][1000 genomes]
rs72990447	1.00[AMR][1000 genomes]
rs72990454	1.00[AMR][1000 genomes]
rs72990460	1.00[AMR][1000 genomes]
rs72998179	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998192	1.00[AMR][1000 genomes]
rs73000165	1.00[AMR][1000 genomes]
rs73000167	1.00[AMR][1000 genomes]
rs73000171	1.00[AMR][1000 genomes]
rs73002090	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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS 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	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 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	chr1:114449800-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:114455800-114465400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:114456200-114465400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:114456200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:114456200-114470600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:114456200-114471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:114456400-114470400	Weak transcription	HSMM	muscle
8	chr1:114457200-114470600	Weak transcription	Primary T cells from cord blood	blood
9	chr1:114457600-114470400	Weak transcription	Fetal Thymus	thymus
10	chr1:114459200-114470400	Weak transcription	Primary hematopoietic stem cells short term culture	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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