Variant report

Variant	rs7218554
Chromosome Location	chr17:16775836-16775837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12325677	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12946140	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1807401	0.90[EUR][1000 genomes]
rs1807402	0.90[EUR][1000 genomes]
rs2089177	0.90[EUR][1000 genomes]
rs2174369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2349295	0.83[EUR][1000 genomes]
rs35350506	0.90[EUR][1000 genomes]
rs3764410	0.85[EUR][1000 genomes]
rs4034424	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4312350	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4313843	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4360974	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444380	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4468669	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4488491	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4527060	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791696	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4792789	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4792790	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5018443	1.00[ASN][1000 genomes]
rs56192520	0.86[EUR][1000 genomes]
rs56324271	0.90[EUR][1000 genomes]
rs62064624	0.90[EUR][1000 genomes]
rs62064631	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62064634	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502526	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6502534	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7207577	0.81[EUR][1000 genomes]
rs7214075	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7225743	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs899795	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890726	0.82[EUR][1000 genomes]
rs9895995	0.92[ASN][1000 genomes]
rs9900318	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908602	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv907723	chr17:16643881-16777177	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2753951	chr17:16660721-16848750	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv2755100	chr17:16660721-16848750	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv9498	chr17:16716331-16777806	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1844622	chr17:16717002-16779412	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv1847753	chr17:16717002-16779412	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv960065	chr17:16758719-16789003	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 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	chr17:16762200-16776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:16771200-16776000	Weak transcription	A549	lung
3	chr17:16775200-16776000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16775400-16777600	Enhancers	Fetal Intestine Small	intestine
5	chr17:16775600-16777000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:16775600-16777800	Enhancers	Fetal Intestine Large	intestine
7	chr17:16775800-16776000	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr17:16775800-16776000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr17:16775800-16776000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr17:16775800-16776200	Enhancers	Fetal Brain Male	brain
11	chr17:16775800-16776200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr17:16775800-16777400	Enhancers	Liver	Liver
13	chr17:16775800-16777800	Enhancers	Duodenum Mucosa	Duodenum

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