Variant report

Variant	rs819435
Chromosome Location	chr7:80224372-80224373
allele	A/C
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:42)

rs_ID	r²[population]
rs10480808	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1049654	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10499859	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1054516	0.84[EUR][1000 genomes]
rs11770358	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11770907	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11771152	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1194177	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1194178	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1194179	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1194182	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13233631	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13236689	0.85[EUR][1000 genomes]
rs13438282	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1413661	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1527479	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1537477	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17154155	0.85[EUR][1000 genomes]
rs1722502	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1722505	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761661	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761662	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1761665	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761667	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1953298	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1953299	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2366855	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3211821	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3211839	0.85[ASN][1000 genomes]
rs3211849	0.85[ASN][1000 genomes]
rs3212160	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4316098	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4545029	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4626520	0.90[EUR][1000 genomes]
rs4728183	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731643	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6961024	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6961069	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7807607	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs819436	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819437	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819441	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80212600-80226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:80219400-80226400	Weak transcription	Fetal Lung	lung
3	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:80223200-80225000	Enhancers	Adipose Nuclei	Adipose
5	chr7:80223400-80225200	Weak transcription	HepG2	liver
6	chr7:80223800-80224400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:80223800-80225200	Weak transcription	Right Atrium	heart
8	chr7:80223800-80229400	Weak transcription	Stomach Mucosa	stomach
9	chr7:80223800-80231400	Weak transcription	Right Ventricle	heart
10	chr7:80224000-80224400	Enhancers	Hela-S3	cervix
11	chr7:80224000-80225400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:80224000-80229400	Weak transcription	Psoas Muscle	Psoas
13	chr7:80224200-80224600	Enhancers	A549	lung
14	chr7:80224200-80226600	Weak transcription	Fetal Heart	heart
15	chr7:80224200-80229800	Weak transcription	Left Ventricle	heart

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