Variant report

Variant	rs2127875
Chromosome Location	chr18:8857994-8857995
allele	A/T
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:4)

rs_ID	r²[population]
rs4798696	0.86[EUR][1000 genomes]
rs5024791	0.88[YRI][hapmap]
rs625719	0.88[ASN][1000 genomes]
rs690237	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8854800-8858800	Weak transcription	A549	lung
2	chr18:8854800-8859200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8855200-8859000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:8855400-8859000	Weak transcription	NHLF	lung
5	chr18:8855400-8860200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:8856600-8859000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:8856600-8860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:8856800-8861000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:8857000-8859000	Weak transcription	NHEK	skin
10	chr18:8857000-8859600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:8857200-8859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:8857400-8858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:8857800-8859600	Enhancers	HMEC	breast

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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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