Variant report

Variant	rs712267
Chromosome Location	chr17:18021607-18021608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18019422..18021646-chr17:18026268..18029392,3	MCF-7	breast:
2	chr17:18012129..18016581-chr17:18018314..18021860,5	K562	blood:
3	chr17:18020446..18022435-chr17:18029700..18032433,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1008135	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1101727	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078410	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11650021	0.81[EUR][1000 genomes]
rs11867241	0.87[EUR][1000 genomes]
rs12939020	0.81[EUR][1000 genomes]
rs2056842	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955350	0.83[EUR][1000 genomes]
rs2955353	0.83[EUR][1000 genomes]
rs2955354	0.83[EUR][1000 genomes]
rs2955355	0.83[EUR][1000 genomes]
rs2955356	0.83[EUR][1000 genomes]
rs2955357	0.83[EUR][1000 genomes]
rs2955358	0.83[EUR][1000 genomes]
rs2955359	0.83[EUR][1000 genomes]
rs2955365	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955366	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955367	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955368	0.84[EUR][1000 genomes]
rs2955370	0.83[EUR][1000 genomes]
rs2955372	0.84[EUR][1000 genomes]
rs2955380	0.83[EUR][1000 genomes]
rs2955381	0.82[EUR][1000 genomes]
rs2955383	0.81[EUR][1000 genomes]
rs2955384	0.82[EUR][1000 genomes]
rs2955385	0.82[EUR][1000 genomes]
rs2974998	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2974999	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4365346	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4410135	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4426402	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4506967	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4561528	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4643387	0.83[EUR][1000 genomes]
rs4925135	0.83[EUR][1000 genomes]
rs4925136	0.82[EUR][1000 genomes]
rs59518074	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073573	0.94[EUR][1000 genomes]
rs6502633	0.82[EUR][1000 genomes]
rs6502636	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502637	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6826	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712268	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7207461	0.83[EUR][1000 genomes]
rs7210400	0.83[EUR][1000 genomes]
rs7211714	0.94[EUR][1000 genomes]
rs7212447	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs721669	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7224047	0.80[EUR][1000 genomes]
rs7406744	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7406982	0.80[EUR][1000 genomes]
rs741782	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7503738	0.80[EUR][1000 genomes]
rs8066764	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8080602	0.83[EUR][1000 genomes]
rs854763	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854767	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854769	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854789	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs854790	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854791	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs854792	0.84[EUR][1000 genomes]
rs854808	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854809	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854814	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs854817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854818	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303144	0.92[EUR][1000 genomes]
rs9894138	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv457697	chr17:18003845-18046290	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv574527	chr17:18003845-18046290	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs712267	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18010600-18030400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:18011000-18022600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:18011200-18022000	Weak transcription	Placenta	Placenta
4	chr17:18011200-18026200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:18014600-18022400	Weak transcription	Spleen	Spleen
6	chr17:18015600-18022000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:18019200-18026800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:18020200-18022000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr17:18020400-18021800	Flanking Active TSS	HepG2	liver
10	chr17:18020400-18022000	Enhancers	Fetal Muscle Leg	muscle
11	chr17:18020600-18022000	Enhancers	Fetal Muscle Trunk	muscle
12	chr17:18020600-18022000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr17:18020800-18022000	Enhancers	HSMMtube	muscle
14	chr17:18021000-18021800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:18021000-18021800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:18021000-18021800	Enhancers	Liver	Liver
17	chr17:18021000-18021800	Enhancers	HSMM	muscle
18	chr17:18021400-18021800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:18021400-18021800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:18021400-18022000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:18021600-18021800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:18021600-18024000	ZNF genes & repeats	Fetal Stomach	stomach
23	chr17:18021600-18025800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:18021600-18026800	Weak transcription	Psoas Muscle	Psoas

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