Variant report

Variant	rs58533146
Chromosome Location	chr2:113468896-113468897
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113414501..113417087-chr2:113468688..113471406,2	K562	blood:
2	chr2:113462515..113465478-chr2:113468024..113470345,2	K562	blood:
3	chr2:113468894..113470919-chr2:113476217..113478885,2	MCF-7	breast:
4	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:
5	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
6	chr2:113468636..113470784-chr2:113471239..113473518,2	MCF-7	breast:
7	chr2:113463436..113465065-chr2:113468008..113469803,2	K562	blood:
8	chr2:113458404..113460724-chr2:113468297..113470571,2	K562	blood:
9	chr2:113461776..113469381-chr2:113473397..113480932,10	K562	blood:
10	chr2:113415587..113417242-chr2:113468748..113471406,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55884358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56350405	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58686486	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv441775	chr2:113462399-113478887	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2755193	chr2:113467769-113478769	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113458800-113469000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:113462600-113469400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:113462800-113469200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:113463000-113469000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:113465200-113470600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113465400-113469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:113465400-113470400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:113465400-113470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:113465400-113470600	Weak transcription	HMEC	breast
11	chr2:113465400-113470600	Weak transcription	NHEK	skin
12	chr2:113465600-113470400	Enhancers	K562	blood
13	chr2:113465800-113470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113467400-113469200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:113467600-113470600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:113467800-113470000	Weak transcription	Spleen	Spleen
17	chr2:113467800-113471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:113468000-113470000	Weak transcription	GM12878-XiMat	blood
19	chr2:113468000-113470400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:113468800-113470600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:113468800-113470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:113468800-113470800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:113468800-113472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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