Variant report

Variant	rs6983321
Chromosome Location	chr8:105197334-105197335
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:22)

rs_ID	r²[population]
rs1005684	0.83[ASN][1000 genomes]
rs10098473	1.00[EUR][1000 genomes]
rs10098791	1.00[EUR][1000 genomes]
rs10102344	0.89[ASN][1000 genomes]
rs12547973	0.83[ASN][1000 genomes]
rs12550420	0.83[ASN][1000 genomes]
rs1530597	1.00[EUR][1000 genomes]
rs1823169	0.85[ASN][1000 genomes]
rs1823170	0.85[ASN][1000 genomes]
rs58495994	0.85[ASN][1000 genomes]
rs59556771	1.00[EUR][1000 genomes]
rs60452991	1.00[EUR][1000 genomes]
rs61590642	1.00[EUR][1000 genomes]
rs6468913	1.00[EUR][1000 genomes]
rs7011251	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7014322	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018343	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812809	0.85[ASN][1000 genomes]
rs7823401	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7830756	1.00[EUR][1000 genomes]
rs7831777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846107	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island 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	chr8:105188400-105211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:105193200-105197400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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