Variant report

Variant	rs12140562
Chromosome Location	chr1:84428634-84428635
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	chr1:84427756..84430188-chr1:84433127..84434930,2	K562	blood:
2	chr1:84401511..84403535-chr1:84426504..84429096,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10489508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163864	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119854	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123323	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125649	1.00[ASN][1000 genomes]
rs12126397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126515	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127526	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	1.00[ASN][1000 genomes]
rs12128942	1.00[ASN][1000 genomes]
rs12129276	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	1.00[ASN][1000 genomes]
rs12140964	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142220	1.00[ASN][1000 genomes]
rs12142873	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12142944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs12143951	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12144066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45515591	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700983	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645396	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84399200-84429800	Weak transcription	HSMMtube	muscle
2	chr1:84416800-84436400	Weak transcription	Psoas Muscle	Psoas
3	chr1:84420400-84435800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:84424800-84429000	Enhancers	Brain Substantia Nigra	brain
5	chr1:84425200-84433000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:84425200-84453200	Weak transcription	NHLF	lung
7	chr1:84426200-84452200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84426400-84430000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:84426600-84431600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:84426800-84435800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:84427000-84430400	Enhancers	Brain Anterior Caudate	brain
12	chr1:84427800-84432600	Weak transcription	NHDF-Ad	bronchial
13	chr1:84427800-84436400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:84427800-84444600	Weak transcription	HSMM	muscle
15	chr1:84428000-84430800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:84428200-84429000	Enhancers	Brain Angular Gyrus	brain
17	chr1:84428400-84429000	Enhancers	Pancreas	Pancrea
18	chr1:84428400-84429200	Enhancers	Aorta	Aorta
19	chr1:84428400-84430800	Enhancers	Brain Hippocampus Middle	brain
20	chr1:84428600-84429200	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:84428600-84430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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