Variant report

Variant	rs9948091
Chromosome Location	chr18:8440357-8440358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12456951	0.91[ASN][1000 genomes]
rs12458716	0.91[ASN][1000 genomes]
rs12605032	0.91[ASN][1000 genomes]
rs12607406	0.91[ASN][1000 genomes]
rs2125603	0.91[ASN][1000 genomes]
rs2169012	0.91[ASN][1000 genomes]
rs2169013	0.91[ASN][1000 genomes]
rs4239332	0.84[ASN][1000 genomes]
rs4239333	0.83[ASN][1000 genomes]
rs608064	0.86[ASN][1000 genomes]
rs625780	0.91[ASN][1000 genomes]
rs625906	0.91[ASN][1000 genomes]
rs654958	0.81[ASN][1000 genomes]
rs655371	0.81[ASN][1000 genomes]
rs655793	0.81[ASN][1000 genomes]
rs656237	0.81[ASN][1000 genomes]
rs665660	0.82[ASN][1000 genomes]
rs69301	0.84[ASN][1000 genomes]
rs7233494	0.81[ASN][1000 genomes]
rs735525	0.84[ASN][1000 genomes]
rs8085629	0.84[ASN][1000 genomes]
rs8085764	0.84[ASN][1000 genomes]
rs8086939	0.86[ASN][1000 genomes]
rs8087101	0.84[ASN][1000 genomes]
rs898203	0.84[ASN][1000 genomes]
rs930924	0.91[ASN][1000 genomes]
rs9948004	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9950784	0.81[ASN][1000 genomes]
rs9958744	0.91[ASN][1000 genomes]
rs9960618	0.85[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	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
2	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
3	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv458022	chr18:8417484-8471457	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv576429	chr18:8417484-8471457	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv962957	chr18:8430747-8441037	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8439800-8447400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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