Variant report

Variant	rs58419791
Chromosome Location	chr4:110504531-110504532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11939571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11943263	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943264	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12640500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28748067	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28790296	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56218711	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57590851	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59646325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60434260	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6851009	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7676232	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694402	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699921	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9991035	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr4:110484200-110509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:110484400-110509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:110484400-110509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:110484400-110509400	Weak transcription	Thymus	Thymus
5	chr4:110496400-110509000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:110496400-110510200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:110500000-110504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:110500000-110509000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:110500400-110509200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:110500800-110508800	Weak transcription	Primary T cells from cord blood	blood
11	chr4:110504000-110504600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:110504000-110505200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr4:110504200-110504600	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:110504200-110504600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:110504200-110506400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:110504200-110513000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:110504400-110504600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:110504400-110505000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:110504400-110506000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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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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