Variant report

Variant	rs58476665
Chromosome Location	chr7:12249626-12249627
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12248340..12250610-chr7:12341759..12344659,2	K562	blood:
2	chr7:12245428..12248475-chr7:12248558..12250664,3	K562	blood:
3	chr7:12237815..12240381-chr7:12248250..12250812,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10262993	1.00[EUR][1000 genomes]
rs10263331	1.00[EUR][1000 genomes]
rs10266698	1.00[EUR][1000 genomes]
rs10274501	1.00[EUR][1000 genomes]
rs1072262	1.00[EUR][1000 genomes]
rs1595012	1.00[EUR][1000 genomes]
rs16877307	1.00[EUR][1000 genomes]
rs17165685	1.00[EUR][1000 genomes]
rs17165707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17165709	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28471043	1.00[EUR][1000 genomes]
rs57209188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57259822	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57308211	1.00[EUR][1000 genomes]
rs57698857	1.00[EUR][1000 genomes]
rs57742006	1.00[EUR][1000 genomes]
rs57812376	1.00[EUR][1000 genomes]
rs58749049	1.00[EUR][1000 genomes]
rs58818488	1.00[EUR][1000 genomes]
rs58954316	1.00[EUR][1000 genomes]
rs59080097	1.00[EUR][1000 genomes]
rs59769625	1.00[EUR][1000 genomes]
rs60817474	1.00[EUR][1000 genomes]
rs61411483	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6947477	1.00[EUR][1000 genomes]
rs6977974	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6978326	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73289387	1.00[EUR][1000 genomes]
rs73290454	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73291081	1.00[EUR][1000 genomes]
rs73291082	1.00[EUR][1000 genomes]
rs73292961	1.00[EUR][1000 genomes]
rs73292962	1.00[EUR][1000 genomes]
rs73292964	1.00[EUR][1000 genomes]
rs73292965	1.00[EUR][1000 genomes]
rs73295078	1.00[EUR][1000 genomes]
rs73296310	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73297023	1.00[EUR][1000 genomes]
rs73297098	1.00[EUR][1000 genomes]
rs73301022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73301040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679942	1.00[EUR][1000 genomes]
rs7786770	1.00[EUR][1000 genomes]
rs7786784	1.00[EUR][1000 genomes]
rs7801599	1.00[EUR][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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12244800-12249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:12247000-12249800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:12249600-12249800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:12249600-12249800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:12249600-12249800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr7:12249600-12249800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:12249600-12249800	Enhancers	Adipose Nuclei	Adipose
8	chr7:12249600-12249800	Enhancers	Liver	Liver
9	chr7:12249600-12249800	Enhancers	Brain Anterior Caudate	brain
10	chr7:12249600-12249800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:12249600-12249800	Enhancers	Fetal Brain Male	brain
12	chr7:12249600-12249800	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:12249600-12249800	Enhancers	A549	lung
14	chr7:12249600-12249800	Enhancers	HepG2	liver
15	chr7:12249600-12250400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:12249600-12250400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:12249600-12250600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links