Variant report

Variant	rs73124009
Chromosome Location	chr7:40701708-40701709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10251707	0.83[EUR][1000 genomes]
rs11760481	0.87[ASN][1000 genomes]
rs11760535	0.87[ASN][1000 genomes]
rs11763592	0.87[ASN][1000 genomes]
rs11768774	0.87[ASN][1000 genomes]
rs11772576	0.87[ASN][1000 genomes]
rs17171756	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17437228	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17438052	0.87[ASN][1000 genomes]
rs17528582	0.87[ASN][1000 genomes]
rs35456888	0.87[ASN][1000 genomes]
rs4119077	0.87[ASN][1000 genomes]
rs4119078	0.87[ASN][1000 genomes]
rs6956181	0.87[ASN][1000 genomes]
rs6977963	0.87[ASN][1000 genomes]
rs73124004	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73124005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124006	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124015	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73124018	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124020	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73124021	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73124023	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7812176	0.87[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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40699000-40715000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40699400-40713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:40699600-40708400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:40701200-40702600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:40701400-40701800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:40701600-40701800	Enhancers	Aorta	Aorta

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