Variant report

Variant	rs37784
Chromosome Location	chr5:52640726-52640727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10471379	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12658752	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153128	0.83[ASN][1000 genomes]
rs251523	0.83[ASN][1000 genomes]
rs251526	0.82[ASN][1000 genomes]
rs252036	0.85[ASN][1000 genomes]
rs252037	0.85[ASN][1000 genomes]
rs252039	0.85[ASN][1000 genomes]
rs252046	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28088	0.83[ASN][1000 genomes]
rs37775	0.85[ASN][1000 genomes]
rs37779	0.89[ASN][1000 genomes]
rs37781	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs37782	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs38049	0.85[ASN][1000 genomes]
rs40229	0.85[ASN][1000 genomes]
rs420035	0.83[ASN][1000 genomes]
rs607480	0.81[ASN][1000 genomes]
rs73754209	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1027244	chr5:52631507-52644776	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52639800-52640800	ZNF genes & repeats	NHEK	skin
2	chr5:52640000-52641800	Weak transcription	NHDF-Ad	bronchial
3	chr5:52640000-52645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:52640000-52645600	Weak transcription	NHLF	lung
5	chr5:52640000-52646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:52640000-52646200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52640200-52643600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52640400-52645800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:52640600-52645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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