Variant report

Variant	rs73220285
Chromosome Location	chr7:122332607-122332608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10278811	0.98[ASN][1000 genomes]
rs10464665	0.82[ASN][1000 genomes]
rs10487754	0.98[ASN][1000 genomes]
rs1686	0.83[ASN][1000 genomes]
rs17144729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144731	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17144754	0.83[ASN][1000 genomes]
rs2159824	0.84[ASN][1000 genomes]
rs28540575	0.98[ASN][1000 genomes]
rs28642148	0.98[ASN][1000 genomes]
rs35825527	0.83[ASN][1000 genomes]
rs3919525	0.82[ASN][1000 genomes]
rs4140960	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56122498	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56964412	0.81[ASN][1000 genomes]
rs57389578	0.81[ASN][1000 genomes]
rs58199807	0.81[ASN][1000 genomes]
rs6466836	0.84[ASN][1000 genomes]
rs6466838	0.82[ASN][1000 genomes]
rs66524549	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66552780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66699011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66798940	0.81[ASN][1000 genomes]
rs66884888	0.82[ASN][1000 genomes]
rs66970091	0.84[ASN][1000 genomes]
rs67210777	0.84[ASN][1000 genomes]
rs67253616	0.81[ASN][1000 genomes]
rs67263105	0.84[ASN][1000 genomes]
rs67327643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67549880	0.84[ASN][1000 genomes]
rs67759336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67765659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67803746	0.82[ASN][1000 genomes]
rs67817582	0.84[ASN][1000 genomes]
rs67969832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607714	0.84[ASN][1000 genomes]
rs7794795	0.84[ASN][1000 genomes]
rs9640810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv817238	chr7:122325864-122371594	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122324000-122336000	Weak transcription	Right Atrium	heart
2	chr7:122324200-122336000	Weak transcription	Fetal Lung	lung
3	chr7:122327600-122336000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:122329000-122333200	Weak transcription	Right Ventricle	heart
5	chr7:122329600-122343400	Weak transcription	Ovary	ovary
6	chr7:122330000-122343000	Weak transcription	Spleen	Spleen
7	chr7:122330000-122347000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:122330200-122333800	Enhancers	Pancreas	Pancrea
9	chr7:122330200-122336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:122330400-122333000	Weak transcription	HepG2	liver
11	chr7:122332200-122332800	Enhancers	Left Ventricle	heart
12	chr7:122332200-122333000	Enhancers	Gastric	stomach
13	chr7:122332200-122333400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:122332600-122333000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:122332600-122333000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:122332600-122333200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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