Variant report

Variant	rs2030864
Chromosome Location	chr7:11768438-11768439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10231239	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10231490	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10260742	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10260945	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10261703	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10276476	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10276580	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10499416	0.86[ASN][1000 genomes]
rs10950365	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12699254	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1526560	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2030863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2030865	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2355074	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2355075	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2883588	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2883590	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4532508	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4719283	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4721007	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6460840	0.81[CEU][hapmap]
rs7777571	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7801563	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9691407	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9691412	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9691415	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9691555	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9692106	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9692144	0.83[AMR][1000 genomes];0.88[EUR][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	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv606202	chr7:11684576-11774687	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1035078	chr7:11711728-11773517	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv887611	chr7:11712819-11778424	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032001	chr7:11725188-11773517	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1026670	chr7:11726224-11774241	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv433029	chr7:11753260-11787060	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv887612	chr7:11756776-11806289	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv887613	chr7:11766964-11806289	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11768000-11782000	Weak transcription	Fetal Lung	lung
2	chr7:11768200-11769000	Weak transcription	A549	lung

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