Variant report

Variant	rs1595012
Chromosome Location	chr7:12228784-12228785
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:45)

rs_ID	r²[population]
rs10262993	1.00[EUR][1000 genomes]
rs10263331	1.00[EUR][1000 genomes]
rs10266698	1.00[EUR][1000 genomes]
rs10274501	1.00[EUR][1000 genomes]
rs1072262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979594	1.00[EUR][1000 genomes]
rs16877307	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17165685	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17165707	1.00[EUR][1000 genomes]
rs17165709	1.00[EUR][1000 genomes]
rs28471043	1.00[EUR][1000 genomes]
rs57209188	1.00[EUR][1000 genomes]
rs57259822	1.00[EUR][1000 genomes]
rs57308211	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57698857	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57742006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57812376	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58476665	1.00[EUR][1000 genomes]
rs58749049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58954316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59080097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59769625	1.00[EUR][1000 genomes]
rs60817474	1.00[EUR][1000 genomes]
rs61411483	1.00[EUR][1000 genomes]
rs6947477	1.00[EUR][1000 genomes]
rs6977974	1.00[EUR][1000 genomes]
rs6978326	1.00[EUR][1000 genomes]
rs73289387	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73290454	1.00[EUR][1000 genomes]
rs73291081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73291082	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292961	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292962	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292964	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73292965	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73295078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296310	1.00[EUR][1000 genomes]
rs73297023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73297098	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73301022	1.00[EUR][1000 genomes]
rs73301040	1.00[EUR][1000 genomes]
rs73679942	1.00[EUR][1000 genomes]
rs7786770	1.00[EUR][1000 genomes]
rs7786784	1.00[EUR][1000 genomes]
rs7801599	1.00[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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12228400-12238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12228600-12229400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:12228600-12230800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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