Variant report

Variant	rs8097527
Chromosome Location	chr18:11963552-11963553
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11950713..11953292-chr18:11962814..11965398,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1662603	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1787984	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075824	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2866438	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs585283	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs587243	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62097454	0.80[EUR][1000 genomes]
rs62097455	0.81[EUR][1000 genomes]
rs662383	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs663749	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs664217	0.82[EUR][1000 genomes]
rs665497	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs665888	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs666427	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs694039	0.82[EUR][1000 genomes]
rs694509	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7226760	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs971362	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9959334	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11952200-11964000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr18:11961000-11963800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:11961200-11972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:11961400-11963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:11962200-11964400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:11962200-11964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:11962200-11965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:11962400-11964200	Enhancers	K562	blood
9	chr18:11962400-11964600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:11962600-11964200	Enhancers	Stomach Smooth Muscle	stomach
11	chr18:11962600-11964600	Enhancers	Rectal Smooth Muscle	rectum
12	chr18:11962600-11964600	Enhancers	A549	lung
13	chr18:11962800-11963800	Weak transcription	Fetal Stomach	stomach
14	chr18:11962800-11964200	Enhancers	Hela-S3	cervix
15	chr18:11963000-11963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:11963000-11963800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr18:11963000-11964000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:11963000-11964000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:11963000-11964000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:11963000-11964000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:11963000-11964200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:11963000-11964200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:11963000-11964200	Weak transcription	Colon Smooth Muscle	Colon
24	chr18:11963200-11963600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:11963200-11963600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:11963200-11963600	Weak transcription	Osteobl	bone
27	chr18:11963200-11964200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:11963400-11964000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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