Variant report

Variant	rs9357416
Chromosome Location	chr6:12579350-12579351
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12569881..12572290-chr6:12579120..12580776,2	MCF-7	breast:
2	chr6:12569378..12572372-chr6:12578735..12580611,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10948081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970539	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970595	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504888	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504892	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2504897	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623230	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758472	0.86[EUR][1000 genomes]
rs6927894	0.94[ASN][1000 genomes]
rs72833774	0.82[EUR][1000 genomes]
rs7751296	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765505	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7770994	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394959	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472034	0.94[ASN][1000 genomes]
rs9472108	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv462638	chr6:12569231-12651249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600991	chr6:12569231-12651249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12573800-12579400	Enhancers	HSMM	muscle
2	chr6:12573800-12586000	Weak transcription	Pancreas	Pancrea
3	chr6:12574000-12579400	Enhancers	A549	lung
4	chr6:12574000-12594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:12575600-12581200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:12576000-12580200	Enhancers	HMEC	breast
7	chr6:12576400-12579400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:12576800-12579400	Enhancers	NH-A	brain
9	chr6:12576800-12579600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:12576800-12580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:12577000-12580200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:12578000-12580800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:12578000-12580800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:12578200-12580200	Enhancers	NHEK	skin
15	chr6:12578200-12585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:12578200-12585400	Weak transcription	Placenta	Placenta
17	chr6:12578400-12579600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:12578400-12585400	Weak transcription	Lung	lung
19	chr6:12578800-12582200	Weak transcription	HUVEC	blood vessel
20	chr6:12579000-12582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:12579000-12585000	Weak transcription	Fetal Intestine Small	intestine
22	chr6:12579200-12585000	Weak transcription	Placenta Amnion	Placenta Amnion

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