Variant report

Variant	rs4399594
Chromosome Location	chr18:8225425-8225426
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1005034	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853361	0.86[ASN][1000 genomes]
rs1117756	0.84[AFR][1000 genomes]
rs1117757	0.84[AFR][1000 genomes]
rs1117758	0.81[AFR][1000 genomes]
rs11659295	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11659503	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454501	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12605453	0.84[AFR][1000 genomes]
rs12607046	0.84[AFR][1000 genomes]
rs12607050	0.84[AFR][1000 genomes]
rs13381444	0.84[AFR][1000 genomes]
rs13381650	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860963	0.84[AFR][1000 genomes]
rs1860964	0.83[AFR][1000 genomes]
rs2377738	0.83[AFR][1000 genomes]
rs2377739	0.84[AFR][1000 genomes]
rs2889716	0.84[AFR][1000 genomes]
rs3935751	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935752	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399595	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405615	0.87[ASN][1000 genomes]
rs4563098	0.86[ASN][1000 genomes]
rs4992032	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61506273	0.86[ASN][1000 genomes]
rs61705599	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62091309	0.80[ASN][1000 genomes]
rs6506559	0.86[ASN][1000 genomes]
rs7226765	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7230057	0.84[AFR][1000 genomes]
rs7238009	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7238296	0.83[AFR][1000 genomes]
rs7238328	0.83[AFR][1000 genomes]
rs7238408	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241591	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7241602	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7241698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245067	0.84[AFR][1000 genomes]
rs8086412	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088845	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8098107	0.85[AFR][1000 genomes]
rs976169	0.82[AFR][1000 genomes]
rs9956011	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9956156	0.81[AFR][1000 genomes]
rs9962248	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv458021	chr18:8193657-8227344	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv470407	chr18:8193657-8227344	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv576428	chr18:8193657-8227344	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1055995	chr18:8222469-8271135	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
4	chr18:8205600-8225600	Weak transcription	Lung	lung
5	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:8213000-8229600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:8213400-8233000	Weak transcription	Fetal Thymus	thymus
8	chr18:8213800-8226800	Weak transcription	Adipose Nuclei	Adipose
9	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
10	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:8220000-8225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:8220000-8225600	Weak transcription	Pancreas	Pancrea
13	chr18:8220200-8231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:8223400-8227400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:8225200-8226400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr18:8225400-8225600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:8225400-8225600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr18:8225400-8225800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:8225400-8225800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8225400-8225800	ZNF genes & repeats	Aorta	Aorta
21	chr18:8225400-8226200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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