Variant report

Variant	rs9394959
Chromosome Location	chr6:12578859-12578860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12569378..12572372-chr6:12578735..12580611,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10948081	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970539	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970595	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490447	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2490449	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2504888	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2504892	0.92[ASN][1000 genomes]
rs2504895	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2504897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876277	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4526191	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535543	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623230	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927894	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7751296	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765505	0.94[ASN][1000 genomes]
rs7770994	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357416	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472034	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9472108	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12573200-12579200	Enhancers	NHDF-Ad	bronchial
2	chr6:12573800-12579400	Enhancers	HSMM	muscle
3	chr6:12573800-12586000	Weak transcription	Pancreas	Pancrea
4	chr6:12574000-12579400	Enhancers	A549	lung
5	chr6:12574000-12594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:12575600-12581200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:12576000-12579000	Enhancers	Fetal Intestine Small	intestine
8	chr6:12576000-12580200	Enhancers	HMEC	breast
9	chr6:12576200-12579000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:12576200-12579200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:12576400-12579400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:12576800-12579200	Enhancers	Osteobl	bone
13	chr6:12576800-12579400	Enhancers	NH-A	brain
14	chr6:12576800-12579600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:12576800-12580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:12577000-12579200	Enhancers	NHLF	lung
17	chr6:12577000-12580200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:12578000-12580800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:12578000-12580800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:12578200-12579000	Weak transcription	Esophagus	oesophagus
21	chr6:12578200-12579000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:12578200-12580200	Enhancers	NHEK	skin
23	chr6:12578200-12585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:12578200-12585400	Weak transcription	Placenta	Placenta
25	chr6:12578400-12579600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:12578400-12585400	Weak transcription	Lung	lung
27	chr6:12578800-12582200	Weak transcription	HUVEC	blood vessel

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