Variant report

Variant	rs1983790
Chromosome Location	chr6:164055956-164055957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164029433..164031807-chr6:164055336..164057552,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10945912	0.87[ASN][1000 genomes]
rs12527518	0.87[ASN][1000 genomes]
rs4709734	0.89[EUR][1000 genomes]
rs7743998	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7744332	0.89[EUR][1000 genomes]
rs7745368	0.92[EUR][1000 genomes]
rs7764847	0.85[EUR][1000 genomes]
rs7772530	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773064	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347772	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9356128	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9365592	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365593	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9458867	0.80[ASN][1000 genomes]
rs9458869	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9458870	0.83[AMR][1000 genomes];0.92[EUR][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3422917	chr6:164054362-164058660	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164048000-164061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:164052200-164073000	Weak transcription	Fetal Heart	heart
3	chr6:164055000-164056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:164055200-164056000	Enhancers	Placenta	Placenta
5	chr6:164055200-164056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:164055200-164056600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:164055200-164057200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:164055400-164056200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:164055400-164057000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:164055400-164057200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:164055400-164057600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:164055400-164057600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:164055600-164056000	Enhancers	Esophagus	oesophagus
14	chr6:164055600-164056000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr6:164055600-164056000	Enhancers	HMEC	breast
16	chr6:164055600-164056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:164055800-164056000	Enhancers	Right Ventricle	heart
18	chr6:164055800-164056000	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr6:164055800-164056200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:164055800-164056800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:164055800-164057000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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