Variant report

Variant	rs58685423
Chromosome Location	chr1:185226078-185226079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185225715..185228034-chr1:185284675..185287044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs10494582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11804954	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12041641	1.00[EUR][1000 genomes]
rs12240005	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823862	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823875	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823884	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823891	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2025228	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2144664	1.00[EUR][1000 genomes]
rs3766713	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3766716	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3895195	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57927210	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57960155	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58031282	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58292874	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59035619	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59227355	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59611551	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6672580	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6679946	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6687946	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6698620	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7515757	0.85[ASN][1000 genomes]
rs7516303	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]
rs7555243	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs953701	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs953702	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS 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	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
4	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
5	chr1:185226000-185226200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:185226000-185226200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:185226000-185226400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:185226000-185226400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:185226000-185226800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:185226000-185226800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:185226000-185227000	Enhancers	Fetal Thymus	thymus
12	chr1:185226000-185227200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:185226000-185227200	Enhancers	Dnd41	blood
14	chr1:185226000-185227600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:185226000-185228000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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