Variant report

Variant	rs7226993
Chromosome Location	chr18:11809192-11809193
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	chr18:11807901..11810872-chr18:11812485..11815460,3	K562	blood:
2	chr18:11808910..11811619-chr18:11851071..11853396,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12326439	0.84[ASN][1000 genomes]
rs12327266	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12965697	0.91[ASN][1000 genomes]
rs1477483	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1786568	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1941224	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2161960	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28651978	0.83[ASN][1000 genomes]
rs4797579	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4797582	0.81[ASN][1000 genomes]
rs57536188	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59700035	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60736251	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8084246	0.83[ASN][1000 genomes]
rs8084992	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8086766	0.86[ASN][1000 genomes]
rs8098539	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9303746	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9675368	0.83[ASN][1000 genomes]
rs9676126	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9948889	0.84[ASN][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11790600-11809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:11805600-11811000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr18:11805800-11811600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr18:11806000-11809200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:11806000-11811200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:11806200-11811400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:11806600-11809200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:11806800-11815800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:11807000-11811400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr18:11807200-11809200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:11807600-11809800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:11808000-11810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:11808000-11810200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:11808000-11810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:11808000-11810200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:11808000-11818600	Weak transcription	K562	blood
18	chr18:11808000-11830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:11808400-11810000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:11808400-11810400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:11808600-11811600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr18:11809000-11810000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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