Variant report

Variant	rs58334334
Chromosome Location	chr1:211760364-211760365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:211760352-211760891	GM12891	blood:	n/a	n/a
2	GATA2	chr1:211760354-211760609	SH-SY5Y	brain:	n/a	chr1:211760450-211760457 chr1:211760447-211760457 chr1:211760450-211760457 chr1:211760451-211760468 chr1:211760449-211760459 chr1:211760450-211760457
3	SPI1	chr1:211760293-211760986	GM12878	blood:	n/a	n/a
4	STAT3	chr1:211760291-211760609	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211759135..211762333-chr1:211776227..211780241,4	K562	blood:
2	chr1:211742646..211744909-chr1:211759048..211760986,2	K562	blood:
3	chr1:211750994..211754600-chr1:211757075..211760507,5	MCF-7	breast:
4	chr1:211760187..211762682-chr1:211831281..211833623,2	K562	blood:

Variant related genes	Relation type
ENSG00000261314	TF binding region
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12080424	1.00[EUR][1000 genomes]
rs1899756	1.00[EUR][1000 genomes]
rs4027038	1.00[EUR][1000 genomes]
rs58551885	1.00[EUR][1000 genomes]
rs58556715	0.95[AFR][1000 genomes]
rs6661875	1.00[EUR][1000 genomes]
rs73071184	1.00[EUR][1000 genomes]
rs73072811	1.00[EUR][1000 genomes]
rs73072815	1.00[EUR][1000 genomes]
rs73072817	1.00[EUR][1000 genomes]
rs73076963	1.00[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211754000-211765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:211755600-211762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:211756600-211763000	Weak transcription	NHDF-Ad	bronchial
4	chr1:211756800-211762200	Weak transcription	Osteobl	bone
5	chr1:211757000-211762600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:211757000-211763000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:211757400-211762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211757400-211762600	Weak transcription	Spleen	Spleen
9	chr1:211757400-211765400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:211757400-211775200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:211757600-211762600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:211757600-211763600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:211758000-211762000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:211758000-211762000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:211758600-211765400	Weak transcription	Placenta	Placenta
16	chr1:211759200-211760600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211759600-211764800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:211759800-211760400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:211759800-211760600	Enhancers	GM12878-XiMat	blood
20	chr1:211760000-211760800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:211760200-211760600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:211760200-211760600	Enhancers	K562	blood

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