Variant report

Variant	rs56975420
Chromosome Location	chr6:28520205-28520206
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28511955..28518467-chr6:28519043..28523058,10	K562	blood:
2	chr6:28511881..28516576-chr6:28517392..28521415,6	K562	blood:
3	chr6:28519932..28522459-chr6:28575333..28577589,2	K562	blood:
4	chr6:28518883..28520457-chr6:28553546..28556026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246350	Chromatin interaction
ENSG00000232040	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2394101	0.82[EUR][1000 genomes]
rs28382590	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382595	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382599	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382602	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382603	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382609	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382614	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745594	0.98[EUR][1000 genomes]
rs34757087	0.98[EUR][1000 genomes]
rs34951544	0.98[EUR][1000 genomes]
rs35062161	0.98[EUR][1000 genomes]
rs35758328	0.98[EUR][1000 genomes]
rs41270579	0.82[EUR][1000 genomes]
rs41270593	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270596	0.88[EUR][1000 genomes]
rs4540253	0.82[EUR][1000 genomes]
rs55920503	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55965649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043329	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58078500	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59653352	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844212	0.82[EUR][1000 genomes]
rs72844223	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844224	0.84[EUR][1000 genomes]
rs72844225	0.84[EUR][1000 genomes]
rs72844226	0.84[EUR][1000 genomes]
rs72844244	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850077	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850094	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854542	0.82[EUR][1000 genomes]
rs72854546	0.82[EUR][1000 genomes]
rs72854553	0.82[EUR][1000 genomes]
rs72854556	0.82[EUR][1000 genomes]
rs7770236	0.82[EUR][1000 genomes];1.00[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	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv601211	chr6:28483482-28521316	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28510800-28521600	Weak transcription	Pancreas	Pancrea
2	chr6:28519800-28520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:28519800-28520400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:28520200-28520400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:28520200-28520400	Bivalent Enhancer	HepG2	liver
6	chr6:28520200-28520600	Enhancers	Liver	Liver
7	chr6:28520200-28520600	Flanking Active TSS	K562	blood
8	chr6:28520200-28521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:28520200-28521400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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