Variant report

Variant	rs58058349
Chromosome Location	chr1:221935086-221935087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221932602..221935280-chr1:221937123..221939979,2	K562	blood:
2	chr1:221914943..221918116-chr1:221930387..221938960,9	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10779455	1.00[ASN][1000 genomes]
rs10863650	1.00[ASN][1000 genomes]
rs11118830	1.00[ASN][1000 genomes]
rs11118832	1.00[ASN][1000 genomes]
rs11118849	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576121	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582814	0.97[EUR][1000 genomes]
rs12058360	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129426	1.00[ASN][1000 genomes]
rs12134197	1.00[ASN][1000 genomes]
rs57222604	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58969712	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60950693	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61696703	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6668784	0.85[EUR][1000 genomes]
rs6679673	1.00[ASN][1000 genomes]
rs6689267	1.00[ASN][1000 genomes]
rs66916558	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6693577	1.00[ASN][1000 genomes]
rs6701025	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67225019	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67299058	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72736551	1.00[ASN][1000 genomes]
rs72736552	1.00[ASN][1000 genomes]
rs72736557	1.00[ASN][1000 genomes]
rs72736561	1.00[ASN][1000 genomes]
rs72736562	1.00[ASN][1000 genomes]
rs72736563	1.00[ASN][1000 genomes]
rs72736571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340042	1.00[ASN][1000 genomes]
rs7534227	1.00[ASN][1000 genomes]
rs7549374	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221931200-221935800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:221931400-221935200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:221931600-221936400	Enhancers	HUVEC	blood vessel
4	chr1:221932800-221936400	Enhancers	K562	blood
5	chr1:221933200-221935800	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:221933400-221939200	Weak transcription	HMEC	breast
7	chr1:221933600-221935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:221933600-221938400	Weak transcription	NHEK	skin
9	chr1:221933800-221939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:221933800-221939200	Weak transcription	Hela-S3	cervix
11	chr1:221933800-221939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:221934200-221939200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:221934400-221936200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:221934600-221935400	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:221934800-221935600	Enhancers	Ovary	ovary
17	chr1:221934800-221935600	Enhancers	Pancreas	Pancrea
18	chr1:221935000-221939600	Weak transcription	Primary hematopoietic stem cells	blood

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