Variant report

Variant	rs56398718
Chromosome Location	chr4:22687987-22687988
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]
rs10005465	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10012430	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16873082	0.82[EUR][1000 genomes]
rs16873087	0.82[EUR][1000 genomes]
rs28495267	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28561837	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55689327	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56221574	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59785842	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61069572	0.87[EUR][1000 genomes]
rs6820211	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6841197	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73106153	0.87[EUR][1000 genomes]
rs73106159	0.90[EUR][1000 genomes];0.85[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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22682200-22694600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:22682400-22692200	Weak transcription	Liver	Liver
3	chr4:22682600-22689400	Weak transcription	Primary T cells from cord blood	blood
4	chr4:22682600-22691000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:22685200-22693600	Weak transcription	Fetal Intestine Large	intestine
6	chr4:22686200-22692600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:22686600-22688200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:22686800-22688800	Enhancers	Fetal Heart	heart
9	chr4:22687000-22688200	Enhancers	Fetal Muscle Leg	muscle
10	chr4:22687600-22688200	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:22687800-22688400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:22687800-22688600	Enhancers	HSMMtube	muscle
13	chr4:22687800-22689400	Weak transcription	Fetal Thymus	thymus

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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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