Variant report

Variant	rs4280312
Chromosome Location	chr17:60149188-60149189
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10221202	0.82[ASN][1000 genomes]
rs1045196	0.81[ASN][1000 genomes]
rs10512491	0.80[ASN][1000 genomes]
rs16945724	0.81[ASN][1000 genomes]
rs16945762	0.86[ASN][1000 genomes]
rs16945785	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16945823	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28500646	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66685667	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72843767	0.81[ASN][1000 genomes]
rs72843769	0.81[ASN][1000 genomes]
rs72843770	0.82[ASN][1000 genomes]
rs72843771	0.82[ASN][1000 genomes]
rs72843772	0.80[ASN][1000 genomes]
rs72843775	0.86[ASN][1000 genomes]
rs72843778	0.86[ASN][1000 genomes]
rs72843782	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843785	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843788	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843791	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843793	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843797	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843801	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72845403	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72845404	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72845405	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72845406	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72845408	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9910451	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60144000-60152600	Weak transcription	GM12878-XiMat	blood
2	chr17:60145400-60152400	Weak transcription	Fetal Intestine Small	intestine
3	chr17:60145400-60152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:60145600-60149600	Weak transcription	HepG2	liver
5	chr17:60147400-60153600	Weak transcription	Liver	Liver
6	chr17:60147800-60152600	Weak transcription	K562	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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