Variant report

Variant	rs4526191
Chromosome Location	chr6:12578284-12578285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10948081	0.98[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	0.93[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]
rs4535543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623230	0.98[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]
rs9357416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12573200-12579200	Enhancers	NHDF-Ad	bronchial
2	chr6:12573800-12578800	Enhancers	HUVEC	blood vessel
3	chr6:12573800-12579400	Enhancers	HSMM	muscle
4	chr6:12573800-12586000	Weak transcription	Pancreas	Pancrea
5	chr6:12574000-12579400	Enhancers	A549	lung
6	chr6:12574000-12594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:12575600-12581200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:12576000-12579000	Enhancers	Fetal Intestine Small	intestine
9	chr6:12576000-12580200	Enhancers	HMEC	breast
10	chr6:12576200-12579000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:12576200-12579200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:12576400-12579400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:12576600-12578800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:12576800-12578800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:12576800-12579200	Enhancers	Osteobl	bone
16	chr6:12576800-12579400	Enhancers	NH-A	brain
17	chr6:12576800-12579600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:12576800-12580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:12577000-12579200	Enhancers	NHLF	lung
20	chr6:12577000-12580200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:12577800-12578400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:12578000-12578600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:12578000-12580800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:12578000-12580800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:12578200-12579000	Weak transcription	Esophagus	oesophagus
26	chr6:12578200-12579000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:12578200-12580200	Enhancers	NHEK	skin
28	chr6:12578200-12585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:12578200-12585400	Weak transcription	Placenta	Placenta

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