Variant report

Variant	rs12454728
Chromosome Location	chr18:8213200-8213201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1005035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10468776	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11659222	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11661214	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11663517	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12457610	0.80[MKK][hapmap];0.86[YRI][hapmap]
rs2192192	0.81[EUR][1000 genomes]
rs4798618	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6506554	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6506558	0.92[ASN][1000 genomes]
rs7232207	0.80[AMR][1000 genomes]
rs7232432	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7238177	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7239742	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8092312	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8094072	0.86[YRI][hapmap]
rs8095318	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9956011	0.81[CHB][hapmap]
rs9958585	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9967455	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
4	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
7	chr18:8196800-8215000	Weak transcription	Thymus	Thymus
8	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:8204400-8214600	Weak transcription	Fetal Stomach	stomach
10	chr18:8205600-8225600	Weak transcription	Lung	lung
11	chr18:8208600-8224200	Weak transcription	A549	lung
12	chr18:8210200-8214200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:8210400-8217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr18:8211800-8213800	Enhancers	Hela-S3	cervix
16	chr18:8211800-8214200	Enhancers	Left Ventricle	heart
17	chr18:8211800-8216800	Weak transcription	Ovary	ovary
18	chr18:8212000-8213800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:8212000-8213800	Enhancers	Fetal Heart	heart
20	chr18:8212000-8215000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:8212200-8213800	Strong transcription	Liver	Liver
22	chr18:8212200-8213800	Enhancers	Osteobl	bone
23	chr18:8212400-8213400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:8212400-8213800	Strong transcription	Adipose Nuclei	Adipose
25	chr18:8212400-8218000	Weak transcription	Brain Germinal Matrix	brain
26	chr18:8212600-8213600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:8212600-8213600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:8212600-8213800	Enhancers	NH-A	brain
29	chr18:8212600-8214000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr18:8212800-8213400	Strong transcription	Fetal Thymus	thymus
31	chr18:8212800-8213400	Enhancers	HSMM	muscle
32	chr18:8212800-8213400	Enhancers	NHDF-Ad	bronchial
33	chr18:8212800-8213400	Enhancers	NHLF	lung
34	chr18:8212800-8213600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:8213000-8213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:8213000-8213800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:8213000-8213800	Strong transcription	Fetal Muscle Leg	muscle
38	chr18:8213000-8229600	Weak transcription	Stomach Smooth Muscle	stomach

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