Variant report

Variant	rs17443688
Chromosome Location	chr5:58523057-58523058
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1867725	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2216699	0.92[EUR][1000 genomes]
rs59019685	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61584344	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6450513	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66589198	0.86[EUR][1000 genomes]
rs67123835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67272153	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67656226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867240	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867591	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6872782	0.83[ASN][1000 genomes]
rs72765910	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72765918	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974766	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
2	chr5:58516000-58530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
4	chr5:58518400-58527000	Weak transcription	Fetal Heart	heart
5	chr5:58519200-58523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
7	chr5:58519400-58523600	Weak transcription	Fetal Kidney	kidney
8	chr5:58519400-58524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58519400-58529600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:58521400-58532800	Weak transcription	Hela-S3	cervix
12	chr5:58522800-58526000	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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