Variant report

Variant	rs4650430
Chromosome Location	chr1:80158509-80158510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10493655	0.82[ASN][1000 genomes]
rs10747364	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11162766	0.82[ASN][1000 genomes]
rs1317042	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1339789	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1568762	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61766270	0.94[ASN][1000 genomes]
rs61768563	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768565	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768567	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768585	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768588	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61768594	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61768595	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61768599	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61768600	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61768601	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6662701	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6676931	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7528981	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012296	chr1:79945395-80300216	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546637	chr1:79984748-80159969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv546638	chr1:80131994-80353796	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv546639	chr1:80152599-80177947	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80147600-80158600	Weak transcription	Gastric	stomach
2	chr1:80150400-80158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:80157600-80161200	Enhancers	Fetal Intestine Large	intestine
4	chr1:80157800-80159200	Enhancers	Pancreas	Pancrea
5	chr1:80157800-80161200	Enhancers	Fetal Intestine Small	intestine
6	chr1:80158000-80159400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:80158000-80159800	Enhancers	Stomach Mucosa	stomach

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