Variant report

Variant	rs7243209
Chromosome Location	chr18:8233278-8233279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6506560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230842	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[ASN][1000 genomes]
rs7241153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394042	0.89[ASN][1000 genomes]
rs7506646	1.00[JPT][hapmap]
rs8093791	0.89[ASN][1000 genomes]
rs9946242	1.00[CHB][hapmap]

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	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

No data

Chromatin state (count:30 , 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	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
4	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:8225800-8234400	Weak transcription	Psoas Muscle	Psoas
6	chr18:8225800-8244000	Weak transcription	Aorta	Aorta
7	chr18:8227000-8253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:8227200-8255000	Weak transcription	A549	lung
9	chr18:8227400-8254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:8230200-8254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:8230800-8242200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:8231400-8245000	Weak transcription	Ovary	ovary
13	chr18:8231400-8265000	Weak transcription	Pancreas	Pancrea
14	chr18:8231600-8243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:8231600-8247600	Weak transcription	Adipose Nuclei	Adipose
16	chr18:8232000-8234000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:8232000-8241600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8232200-8242000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:8232400-8233400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8232600-8233400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr18:8232600-8233400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr18:8232600-8234000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr18:8232800-8233400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr18:8233000-8233400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr18:8233000-8233400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr18:8233000-8244800	Weak transcription	Thymus	Thymus
27	chr18:8233200-8233400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:8233200-8233600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:8233200-8233800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:8233200-8253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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