Variant report

Variant	rs28688244
Chromosome Location	chr8:10975405-10975406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10108967	1.00[EUR][1000 genomes]
rs11984728	0.94[ASN][1000 genomes]
rs11984987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986294	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991271	1.00[EUR][1000 genomes]
rs11992161	1.00[EUR][1000 genomes]
rs28417024	1.00[EUR][1000 genomes]
rs28516856	1.00[EUR][1000 genomes]
rs28519973	1.00[EUR][1000 genomes]
rs28579363	1.00[EUR][1000 genomes]
rs28594876	1.00[EUR][1000 genomes]
rs28712616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651506	1.00[EUR][1000 genomes]
rs6651507	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7843934	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1027845	chr8:10959666-10995565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10963000-10981200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:10965800-10981600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:10966200-10981400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:10972000-10975800	Weak transcription	Left Ventricle	heart
7	chr8:10972000-10977400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:10974200-10975600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:10974200-10975800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:10974200-10975800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:10974400-10975600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:10974800-10975600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:10975000-10975600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:10975000-10981000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:10975000-10981200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:10975200-10979400	Weak transcription	GM12878-XiMat	blood
17	chr8:10975400-10975600	Enhancers	iPS-20b 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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