Variant report

Variant	rs538985
Chromosome Location	chr18:8127010-8127011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16952894	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16952902	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17397183	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17397841	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17475401	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1942956	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4456614	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534675	0.95[ASN][1000 genomes]
rs550672	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs557952	0.90[CHB][hapmap]
rs565798	1.00[CHB][hapmap]
rs577369	0.81[CHB][hapmap]
rs591062	0.90[CHB][hapmap]
rs641156	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs644183	1.00[CHB][hapmap]
rs6506549	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs663105	1.00[CHB][hapmap]
rs687245	0.90[CHB][hapmap]
rs7236194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7241382	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73387768	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8082936	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8083862	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8095101	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8099028	0.85[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8099174	0.89[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
3	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
6	chr18:8117200-8132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:8117200-8137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:8117400-8153200	Weak transcription	Liver	Liver
9	chr18:8119200-8138200	Weak transcription	Ovary	ovary
10	chr18:8121200-8145600	Weak transcription	Primary T cells from cord blood	blood
11	chr18:8122400-8157400	Weak transcription	Aorta	Aorta
12	chr18:8122400-8160400	Weak transcription	Thymus	Thymus
13	chr18:8125200-8137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8125200-8138600	Weak transcription	Adipose Nuclei	Adipose
15	chr18:8125200-8138600	Weak transcription	Lung	lung
16	chr18:8125200-8141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:8125600-8130600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8125800-8128200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:8125800-8130800	Weak transcription	NHDF-Ad	bronchial
20	chr18:8125800-8138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:8125800-8139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:8126200-8133000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:8126200-8139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:8126600-8133000	Weak transcription	NHEK	skin
25	chr18:8126800-8133200	Weak transcription	HSMM	muscle
26	chr18:8126800-8153200	Weak transcription	A549	lung
27	chr18:8127000-8127200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:8127000-8137400	Weak transcription	Psoas Muscle	Psoas

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