Variant report

Variant	rs712699
Chromosome Location	chr7:127250597-127250598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127240216..127242638-chr7:127248482..127251048,2	K562	blood:
2	chr7:127249561..127251654-chr7:127253675..127255332,2	K562	blood:
3	chr7:127227957..127230828-chr7:127248126..127251269,4	K562	blood:

Variant related genes	Relation type
ENSG00000004059	Chromatin interaction
ENSG00000106331	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1090681	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1090682	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1090683	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073561	0.83[EUR][1000 genomes]
rs327510	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs327511	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs327512	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs327516	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs327521	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3735642	0.84[EUR][1000 genomes]
rs3735644	0.83[EUR][1000 genomes]
rs3757793	0.83[EUR][1000 genomes]
rs594141	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67719649	0.82[EUR][1000 genomes]
rs698406	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712697	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712698	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712700	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712701	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712703	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712704	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806192	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs806193	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs806195	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806196	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806214	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs806215	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs806216	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs806218	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs806219	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs806220	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806221	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs989099	0.84[EUR][1000 genomes]
rs989100	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr7:127249800-127251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:127249800-127251000	Weak transcription	Gastric	stomach
3	chr7:127249800-127259600	Weak transcription	Pancreas	Pancrea

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