Variant report

Variant	rs11985481
Chromosome Location	chr8:68434533-68434534
allele	C/T
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:23)

rs_ID	r²[population]
rs11984486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985367	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11985562	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11989150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991332	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11994566	0.83[AMR][1000 genomes]
rs11994733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995861	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11995891	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11997749	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11997783	1.00[AMR][1000 genomes]
rs11998063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114222	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12114345	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12114551	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12114562	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12115165	0.92[AFR][1000 genomes]
rs12115177	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1484605	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1503362	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6997223	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68424800-68435000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:68433400-68434800	Enhancers	HMEC	breast
3	chr8:68433800-68435400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:68434000-68435200	Flanking Active TSS	NHEK	skin
5	chr8:68434000-68435400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:68434200-68435200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr8:68434200-68435200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:68434400-68434800	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr8:68434400-68435200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:68434400-68435200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:68434400-68435200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:68434400-68435200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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