Variant report

Variant	rs58136390
Chromosome Location	chr1:45178412-45178413
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	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
2	chr1:45178003..45180723-chr1:45284633..45286676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222009	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000188396	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58532407	0.82[EUR][1000 genomes]
rs58603818	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72671996	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45169200-45180600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:45172200-45180600	Weak transcription	Right Atrium	heart
3	chr1:45174000-45179000	Weak transcription	Hela-S3	cervix
4	chr1:45174000-45180400	Weak transcription	Brain Substantia Nigra	brain
5	chr1:45174200-45179400	Weak transcription	Small Intestine	intestine
6	chr1:45174200-45180600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:45174400-45178600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:45174400-45179200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:45174400-45180600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:45174400-45180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:45174400-45183000	Weak transcription	NHLF	lung
12	chr1:45174400-45190400	Weak transcription	Lung	lung
13	chr1:45174600-45179000	Weak transcription	HMEC	breast
14	chr1:45174600-45179000	Weak transcription	NHEK	skin
15	chr1:45174600-45180600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:45174600-45180600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:45177400-45178600	Enhancers	Primary B cells from cord blood	blood
18	chr1:45177400-45182000	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:45177600-45179000	Enhancers	GM12878-XiMat	blood
20	chr1:45178000-45181600	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:45178200-45179000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:45178200-45179000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:45178200-45181800	Weak transcription	Fetal Brain Male	brain
24	chr1:45178400-45181200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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