Variant report

Variant	rs6022667
Chromosome Location	chr20:52306036-52306037
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16998327	0.92[EUR][1000 genomes]
rs58014966	0.93[EUR][1000 genomes]
rs60003803	0.93[EUR][1000 genomes]
rs6022669	0.97[AFR][1000 genomes]
rs6022675	0.94[EUR][1000 genomes]
rs6022677	0.94[EUR][1000 genomes]
rs6022679	0.92[EUR][1000 genomes]
rs66951711	0.94[EUR][1000 genomes]
rs7264081	0.94[EUR][1000 genomes]
rs73134247	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73283718	0.93[EUR][1000 genomes]
rs7348874	0.92[EUR][1000 genomes]
rs7348908	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
5	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
6	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
9	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv517748	chr20:52304108-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52303000-52307600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr20:52303000-52308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:52303000-52308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:52303000-52308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:52303000-52309200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr20:52303000-52309200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:52303000-52309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr20:52303000-52309400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr20:52303200-52307600	Weak transcription	Placenta	Placenta
10	chr20:52303400-52308400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:52303400-52309200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr20:52305600-52308000	Weak transcription	Osteobl	bone
13	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
14	chr20:52305800-52307600	Weak transcription	HepG2	liver
15	chr20:52305800-52307800	Weak transcription	A549	lung
16	chr20:52305800-52308200	Weak transcription	GM12878-XiMat	blood
17	chr20:52305800-52309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr20:52305800-52309200	Weak transcription	Fetal Thymus	thymus
19	chr20:52305800-52309200	Weak transcription	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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