Variant report

Variant	rs58300265
Chromosome Location	chr2:187343574-187343575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187342880..187347146-chr2:187348518..187352123,10	K562	blood:

Variant related genes	Relation type
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10200873	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10804005	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931247	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11685403	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11891731	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1375323	0.81[ASN][1000 genomes]
rs16827719	0.81[ASN][1000 genomes]
rs1868384	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2099849	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2119861	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2370663	0.81[ASN][1000 genomes]
rs4144784	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4365424	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4544390	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55770081	0.81[ASN][1000 genomes]
rs57092996	0.81[ASN][1000 genomes]
rs57995640	0.81[ASN][1000 genomes]
rs59376280	0.81[ASN][1000 genomes]
rs66647013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741214	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72895450	0.86[EUR][1000 genomes]
rs72897347	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73035219	0.81[ASN][1000 genomes]
rs73035226	0.81[ASN][1000 genomes]
rs73035248	0.81[ASN][1000 genomes]
rs73035254	0.81[ASN][1000 genomes]
rs73035266	0.81[ASN][1000 genomes]
rs73035270	0.81[ASN][1000 genomes]
rs73035271	0.81[ASN][1000 genomes]
rs73037534	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187320600-187347400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:187322600-187345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187328000-187350400	Weak transcription	Pancreas	Pancrea
4	chr2:187337000-187347000	Weak transcription	HepG2	liver
5	chr2:187337000-187348000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:187339800-187347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:187339800-187348400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:187339800-187349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:187340200-187345800	Weak transcription	Fetal Intestine Small	intestine

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