Variant report

Variant	rs4998531
Chromosome Location	chr3:134128415-134128416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10222468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10433422	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2133306	0.87[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs3846051	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs3913264	0.82[EUR][1000 genomes]
rs4974503	0.87[EUR][1000 genomes]
rs6771287	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6783899	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7431009	0.98[ASN][1000 genomes]
rs7624209	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs9289470	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9829949	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9842071	0.95[EUR][1000 genomes]
rs9849457	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs9853685	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9866933	0.87[EUR][1000 genomes]
rs9879839	0.95[EUR][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134126400-134129600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:134126400-134141800	Weak transcription	Brain Angular Gyrus	brain
3	chr3:134126400-134146000	Weak transcription	Pancreas	Pancrea
4	chr3:134126800-134129400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr3:134127000-134129000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr3:134127400-134129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr3:134127600-134129800	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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