Variant report

Variant	rs7512245
Chromosome Location	chr1:185226751-185226752
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	chr1:185225715..185228034-chr1:185284675..185287044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10218496	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798003	0.81[ASN][1000 genomes]
rs10911693	0.94[EUR][1000 genomes]
rs10911700	0.81[ASN][1000 genomes]
rs12024023	0.83[EUR][1000 genomes]
rs12096987	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12118722	0.94[EUR][1000 genomes]
rs12119471	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120377	0.96[EUR][1000 genomes]
rs12127840	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135172	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12136040	0.81[ASN][1000 genomes]
rs1336752	0.90[EUR][1000 genomes]
rs1336753	0.80[ASN][1000 genomes]
rs1591585	0.85[EUR][1000 genomes]
rs1889976	0.81[ASN][1000 genomes]
rs2025227	0.80[EUR][1000 genomes]
rs2383269	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34611062	0.81[ASN][1000 genomes]
rs3766717	0.84[EUR][1000 genomes]
rs57731138	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57977436	0.81[ASN][1000 genomes]
rs6424974	0.94[EUR][1000 genomes]
rs6660169	0.82[EUR][1000 genomes]
rs6666742	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6673303	0.84[EUR][1000 genomes]
rs7533198	0.81[EUR][1000 genomes]
rs7535064	0.96[EUR][1000 genomes]
rs7535261	0.92[EUR][1000 genomes]
rs7539575	0.81[ASN][1000 genomes]
rs7539658	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7542721	0.81[ASN][1000 genomes]
rs7550586	0.94[EUR][1000 genomes]
rs7550599	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7552662	0.80[EUR][1000 genomes]
rs7553819	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs951428	0.94[EUR][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:17 , 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	chr1:185226000-185226800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:185226000-185226800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:185226000-185227000	Enhancers	Fetal Thymus	thymus
8	chr1:185226000-185227200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:185226000-185227200	Enhancers	Dnd41	blood
10	chr1:185226000-185227600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:185226000-185228000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:185226200-185227000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:185226200-185227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:185226600-185227000	Active TSS	Placenta	Placenta
15	chr1:185226600-185227200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:185226600-185227200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:185226600-185227600	Active TSS	HUES6 Cell Line	embryonic stem cell

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