Variant report

Variant	rs6867357
Chromosome Location	chr5:80332973-80332974
allele	A/G
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:14)

rs_ID	r²[population]
rs10043341	0.90[EUR][1000 genomes]
rs10043415	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045596	0.89[EUR][1000 genomes]
rs10045942	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065109	0.90[EUR][1000 genomes]
rs13359431	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625589	0.90[EUR][1000 genomes]
rs28736706	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742039	1.00[ASN][1000 genomes]
rs6151912	1.00[ASN][1000 genomes]
rs72767341	1.00[ASN][1000 genomes]
rs72767377	1.00[ASN][1000 genomes]
rs72767401	1.00[ASN][1000 genomes]
rs72769285	0.92[EUR][1000 genomes];1.00[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:80325400-80338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:80332800-80333000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:80332800-80339200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:80332800-80343800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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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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