Variant report

Variant	rs4131378
Chromosome Location	chr6:53625084-53625085
allele	A/C
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:15)

rs_ID	r²[population]
rs10498795	0.82[EUR][1000 genomes]
rs4077760	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4276504	0.86[EUR][1000 genomes]
rs4380749	0.83[EUR][1000 genomes]
rs4397225	0.83[EUR][1000 genomes]
rs4476827	0.86[EUR][1000 genomes]
rs4493745	0.86[CHB][hapmap]
rs4580851	0.82[EUR][1000 genomes]
rs4605884	0.83[ASN][1000 genomes]
rs61627921	0.83[ASN][1000 genomes]
rs6905927	0.83[EUR][1000 genomes]
rs6919924	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6925165	0.83[EUR][1000 genomes]
rs7752696	0.84[EUR][1000 genomes]
rs7763012	0.87[CHB][hapmap]

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53601600-53638000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:53618200-53630200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:53618800-53635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:53619400-53633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:53625000-53626200	Weak transcription	Brain Germinal Matrix	brain

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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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