Variant report

Variant	rs28600997
Chromosome Location	chr7:80222539-80222540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10216184	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238304	0.81[EUR][1000 genomes]
rs10240336	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10247260	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265215	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10265457	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265780	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268417	0.83[EUR][1000 genomes]
rs10268662	0.83[EUR][1000 genomes]
rs10268765	0.83[EUR][1000 genomes]
rs10275699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532196	0.93[EUR][1000 genomes]
rs12667404	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706916	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13222488	0.97[EUR][1000 genomes]
rs13225492	0.94[EUR][1000 genomes]
rs13228738	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13244883	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1464792	0.93[EUR][1000 genomes]
rs1524596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1722506	0.83[EUR][1000 genomes]
rs1722507	0.84[EUR][1000 genomes]
rs17263407	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1761663	0.83[EUR][1000 genomes]
rs1949818	0.84[EUR][1000 genomes]
rs1953300	0.96[EUR][1000 genomes]
rs1984112	0.93[EUR][1000 genomes]
rs2030710	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2030711	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2065666	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065668	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2151916	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2691199	0.83[EUR][1000 genomes]
rs2691200	0.83[EUR][1000 genomes]
rs28369066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645928	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3173800	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3211816	0.86[EUR][1000 genomes]
rs3211827	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3211871	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3211886	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34493313	0.93[EUR][1000 genomes]
rs34801616	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461673	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62461690	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461693	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461695	0.97[ASN][1000 genomes]
rs62461724	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6965070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6968407	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6969989	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972923	0.83[EUR][1000 genomes]
rs6973242	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7784648	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7789369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7806711	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7807445	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997906	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1017381	chr7:80187725-80224314	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv525704	chr7:80203718-80236014	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3381684	chr7:80220716-80222664	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80211000-80223200	Weak transcription	Left Ventricle	heart
2	chr7:80212600-80226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80213600-80223600	Weak transcription	Psoas Muscle	Psoas
4	chr7:80214800-80223200	Weak transcription	Pancreas	Pancrea
5	chr7:80218400-80223000	Weak transcription	A549	lung
6	chr7:80218400-80223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:80219000-80223200	Weak transcription	Adipose Nuclei	Adipose
8	chr7:80219400-80223200	Weak transcription	Fetal Heart	heart
9	chr7:80219400-80226400	Weak transcription	Fetal Lung	lung
10	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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