Variant report

Variant	rs8085847
Chromosome Location	chr18:8268082-8268083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11661288	1.00[CHB][hapmap]
rs17397183	1.00[YRI][hapmap]
rs3786384	1.00[JPT][hapmap]
rs617642	1.00[YRI][hapmap]
rs7234873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	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
5	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
6	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
7	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8245400-8272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
4	chr18:8246800-8274000	Weak transcription	Hela-S3	cervix
5	chr18:8254200-8279200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:8258400-8278600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:8258600-8286200	Weak transcription	Left Ventricle	heart
8	chr18:8260200-8270400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:8260400-8270400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:8261400-8279800	Weak transcription	Right Ventricle	heart
11	chr18:8262600-8277000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:8264200-8287800	Weak transcription	Lung	lung
13	chr18:8264600-8279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8265200-8279200	Weak transcription	Brain Anterior Caudate	brain
15	chr18:8265400-8271400	Weak transcription	Adipose Nuclei	Adipose
16	chr18:8265400-8288400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:8265400-8296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:8266000-8270600	Weak transcription	Fetal Kidney	kidney
19	chr18:8266000-8277200	Weak transcription	Fetal Lung	lung
20	chr18:8266200-8283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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