Variant report

Variant	rs630638
Chromosome Location	chr1:58927498-58927499
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs338238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338239	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338240	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338243	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338247	0.85[AFR][1000 genomes]
rs338250	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338251	0.85[AFR][1000 genomes]
rs338252	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs338254	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697587	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706461	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706462	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822064	0.96[ASN][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	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv829948	chr1:58803681-58971380	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv546314	chr1:58915624-58936384	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58893400-58929200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:58898800-58929000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:58899000-58934200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:58906200-58932000	Weak transcription	Ovary	ovary
5	chr1:58914000-58930800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
7	chr1:58920400-58929000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:58920400-58934000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:58921200-58932200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:58923200-58927600	Weak transcription	Lung	lung
11	chr1:58923200-58932400	Weak transcription	Fetal Heart	heart
12	chr1:58923200-58954200	Weak transcription	Pancreas	Pancrea
13	chr1:58923400-58932400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:58924000-58932400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:58925000-58942400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:58925400-58928400	Weak transcription	Primary T cells from cord blood	blood
17	chr1:58926400-58932400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:58926400-58942800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:58927400-58934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:58927400-58943200	Weak transcription	Primary B cells from cord blood	blood

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