Variant report

Variant	rs6995179
Chromosome Location	chr8:5242967-5242968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10091320	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10103153	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10108599	0.83[AMR][1000 genomes]
rs11136867	0.81[EUR][1000 genomes]
rs11984498	0.86[EUR][1000 genomes]
rs12115167	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12674567	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12676390	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680473	0.86[EUR][1000 genomes]
rs13264497	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13268797	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13279106	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1405255	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1405258	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1420818	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1420820	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1526363	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17073234	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17073245	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1812623	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2056667	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2056668	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2056669	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2111415	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2160674	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2407965	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34138173	0.85[EUR][1000 genomes]
rs35620939	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4400407	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4560812	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4875527	0.84[EUR][1000 genomes]
rs6982657	0.93[EUR][1000 genomes]
rs6983746	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6994195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014774	0.86[EUR][1000 genomes]
rs7824711	0.86[EUR][1000 genomes]
rs7830546	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7830667	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830825	0.81[EUR][1000 genomes]
rs9987254	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv609902	chr8:5088786-5533605	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031427	chr8:5129076-5603378	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023746	chr8:5200421-5310807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1033879	chr8:5200421-5406984	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv539409	chr8:5200421-5406984	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1829713	chr8:5231127-5248026	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv889990	chr8:5242938-5264326	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5229400-5244400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:5242600-5243600	Enhancers	HUES48 Cell Line	embryonic stem cell

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