Variant report

Variant	rs12030299
Chromosome Location	chr1:80071306-80071307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12023367	1.00[AMR][1000 genomes]
rs12025658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027888	1.00[AMR][1000 genomes]
rs12029642	1.00[AMR][1000 genomes]
rs12030013	1.00[AMR][1000 genomes]
rs12034665	1.00[AMR][1000 genomes]
rs12036905	1.00[AMR][1000 genomes]
rs12037641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12039488	1.00[AMR][1000 genomes]
rs12039867	1.00[AMR][1000 genomes]
rs12039923	1.00[AMR][1000 genomes]
rs12040121	1.00[AMR][1000 genomes]
rs12040237	1.00[AMR][1000 genomes]
rs12040880	1.00[AMR][1000 genomes]
rs12041108	1.00[AMR][1000 genomes]
rs12041732	1.00[AMR][1000 genomes]
rs12041849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12042159	1.00[AMR][1000 genomes]
rs12043955	1.00[AMR][1000 genomes]
rs12044515	1.00[AMR][1000 genomes]
rs12044901	1.00[AMR][1000 genomes]
rs12045663	1.00[AMR][1000 genomes]
rs12045991	1.00[AMR][1000 genomes]
rs12047490	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs17098662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103209	1.00[AMR][1000 genomes]
rs17103224	1.00[AMR][1000 genomes]
rs17103273	1.00[AMR][1000 genomes]
rs17103305	1.00[AMR][1000 genomes]
rs17103450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132054	1.00[AMR][1000 genomes]
rs7525048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012004	chr1:79945395-80096748	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv535017	chr1:79945395-80096748	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv1005022	chr1:79950774-80106902	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546636	chr1:79964823-80079996	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80069400-80071600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:80070200-80071600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:80070800-80072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:80070800-80073200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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