Variant report

Variant	rs2848452
Chromosome Location	chr18:11822545-11822546
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	chr18:11822024..11824929-chr18:11829878..11831566,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12962767	0.88[AMR][1000 genomes]
rs12965108	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12965256	0.88[AMR][1000 genomes]
rs1364632	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1613471	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1614379	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1617064	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1647553	0.86[ASN][1000 genomes]
rs1647554	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1647555	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1647557	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1647558	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1647559	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1647560	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16976671	0.89[AMR][1000 genomes]
rs1786563	0.86[ASN][1000 genomes]
rs1786564	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1786565	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1786566	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1786567	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58359702	0.82[AMR][1000 genomes]
rs61636989	0.89[AMR][1000 genomes]
rs62097372	0.86[ASN][1000 genomes]
rs7231090	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7240632	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9944667	0.80[AMR][1000 genomes]
rs9972997	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11808000-11830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:11817400-11823000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:11820400-11824800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:11821000-11823000	Weak transcription	K562	blood
6	chr18:11821200-11822600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:11821200-11826600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr18:11821600-11823000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:11821600-11823200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr18:11821600-11823800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:11821800-11823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:11821800-11823200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr18:11821800-11823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:11821800-11826600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:11821800-11828800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:11822000-11823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr18:11822000-11823600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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