Variant report

Variant	rs7242256
Chromosome Location	chr18:8196939-8196940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1106700	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11081362	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12457610	0.85[JPT][hapmap]
rs2192193	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2302502	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4405615	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs4476239	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4597385	0.86[CHB][hapmap]
rs61506273	0.82[EUR][1000 genomes]
rs62091308	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62091309	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6506559	0.87[CEU][hapmap]
rs7227119	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7227620	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233007	0.88[EUR][1000 genomes]
rs7233548	0.87[EUR][1000 genomes]
rs7238402	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8094072	0.85[JPT][hapmap]
rs8099632	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs978862	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9960976	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv909360	chr18:8167050-8207445	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	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
7	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8178000-8198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:8178000-8204800	Weak transcription	Right Ventricle	heart
4	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:8178200-8200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
7	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
8	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:8185600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8186800-8198600	Weak transcription	Right Atrium	heart
12	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:8191600-8200200	Weak transcription	Pancreas	Pancrea
15	chr18:8191800-8211800	Weak transcription	Left Ventricle	heart
16	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
17	chr18:8196800-8215000	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links