Variant report

Variant	rs1918256
Chromosome Location	chr2:78262379-78262380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10195907	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12713929	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12713939	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12713940	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12713941	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12991133	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13382358	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13402372	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13413365	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13413511	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13421207	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35189976	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4853370	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5007896	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6730011	0.90[AMR][1000 genomes]
rs6736156	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6752796	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6753037	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67807370	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7556768	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917204	chr2:78047538-78602013	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3329151	chr2:78071300-78271485	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1001461	chr2:78091352-78673948	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2757811	chr2:78126389-78711032	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759068	chr2:78126389-78711032	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1000527	chr2:78176225-78468796	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2756933	chr2:78199735-78640246	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv524102	chr2:78221253-78562013	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2762686	chr2:78224683-78564328	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3693368	chr2:78240557-78381862	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv34750	chr2:78251145-78434845	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv34528	chr2:78256829-78615143	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1918256	REG1P	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78259800-78262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:78261800-78262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:78261800-78263600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:78261800-78263800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:78261800-78263800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:78261800-78263800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:78262000-78263000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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