Variant report

Variant	rs73348864
Chromosome Location	chr7:38453676-38453677
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	chr7:38452252..38454426-chr7:38686850..38688641,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11977538	0.95[AFR][1000 genomes]
rs11978903	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160197	0.81[AFR][1000 genomes]
rs28445255	1.00[AMR][1000 genomes]
rs28695975	1.00[AMR][1000 genomes]
rs28736823	1.00[AMR][1000 genomes]
rs34594861	1.00[AMR][1000 genomes]
rs3819735	0.95[AFR][1000 genomes]
rs56905382	1.00[AMR][1000 genomes]
rs58000336	1.00[AMR][1000 genomes]
rs59446066	0.95[AFR][1000 genomes]
rs59548685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958539	1.00[AMR][1000 genomes]
rs73348814	1.00[AMR][1000 genomes]
rs73348817	1.00[AMR][1000 genomes]
rs73348823	1.00[AMR][1000 genomes]
rs73348834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348840	0.82[AFR][1000 genomes]
rs73348845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348848	1.00[AFR][1000 genomes]
rs73348855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73350792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352603	1.00[AMR][1000 genomes]
rs73356685	1.00[AMR][1000 genomes]
rs7784259	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv967487	chr7:38452736-38456158	Enhancers Weak transcription	Chromatin interactive region	1 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	chr7:38431600-38489000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:38439000-38483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:38444000-38468600	Weak transcription	Fetal Stomach	stomach
4	chr7:38444800-38467600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:38449400-38458000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:38449600-38454000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:38450000-38457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:38451000-38460400	Weak transcription	Aorta	Aorta
9	chr7:38451600-38454200	Enhancers	Primary B cells from cord blood	blood
10	chr7:38451800-38454200	Enhancers	Primary T cells from cord blood	blood
11	chr7:38452000-38454000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:38452000-38454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:38452000-38454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:38452000-38454200	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:38452400-38453800	Enhancers	Dnd41	blood
16	chr7:38453200-38453800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:38453600-38453800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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