Variant report

Variant	rs12068599
Chromosome Location	chr1:185902978-185902979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185902705..185905298-chr1:185906872..185908560,2	MCF-7	breast:
2	chr1:185901537..185904399-chr1:185904673..185907642,2	K562	blood:
3	chr1:185902619..185905382-chr1:185905680..185907449,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10047250	1.00[CEU][hapmap]
rs10157843	1.00[CEU][hapmap]
rs10489717	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489718	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911783	1.00[EUR][1000 genomes]
rs10911784	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10911785	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10911787	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10911788	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911789	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10911790	1.00[EUR][1000 genomes]
rs11586768	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11587002	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11589455	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11800990	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11804668	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12057384	1.00[EUR][1000 genomes]
rs12062879	1.00[CEU][hapmap]
rs12066427	1.00[MEX][hapmap]
rs12067376	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12068829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs12088571	0.86[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095309	0.94[EUR][1000 genomes]
rs1322361	1.00[CEU][hapmap]
rs1407427	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1555494	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28696376	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792457	0.88[AMR][1000 genomes]
rs41397650	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4288554	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58291464	1.00[EUR][1000 genomes]
rs58610258	0.94[EUR][1000 genomes]
rs6425011	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6662653	1.00[TSI][hapmap]
rs6675465	1.00[CEU][hapmap]
rs72703022	1.00[EUR][1000 genomes]
rs72703023	1.00[EUR][1000 genomes]
rs72718866	1.00[EUR][1000 genomes]
rs72718868	1.00[EUR][1000 genomes]
rs72718870	1.00[EUR][1000 genomes]
rs7539719	1.00[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs7546152	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185877800-185904400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:185883000-185907800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:185883200-185907400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:185883600-185906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:185892400-185909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:185895000-185905800	Weak transcription	Fetal Lung	lung
7	chr1:185895200-185932200	Weak transcription	Aorta	Aorta
8	chr1:185896000-185903800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:185896800-185907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:185899200-185903800	Weak transcription	NH-A	brain
11	chr1:185899400-185903400	Weak transcription	Hela-S3	cervix
12	chr1:185899400-185903400	Weak transcription	Osteobl	bone
13	chr1:185899600-185903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:185899600-185903400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:185899600-185903600	Weak transcription	NHDF-Ad	bronchial
16	chr1:185899800-185903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:185902600-185903400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:185902800-185903200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:185902800-185903400	Weak transcription	Liver	Liver
20	chr1:185902800-185904400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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