Variant report

Variant	rs9984951
Chromosome Location	chr21:17847359-17847360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17840645..17843394-chr21:17845243..17848250,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12483106	0.80[ASN][1000 genomes]
rs2000626	0.86[CHB][hapmap]
rs2404135	0.80[ASN][1000 genomes]
rs2823823	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2823824	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2823829	0.95[ASN][1000 genomes]
rs2823832	0.84[GIH][hapmap]
rs2823833	0.84[GIH][hapmap]
rs2823848	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823850	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823851	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2823863	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2823881	0.86[CHB][hapmap]
rs2823884	0.86[CHB][hapmap]
rs2823892	0.86[CHB][hapmap]
rs58611293	0.90[ASN][1000 genomes]
rs59527462	0.80[ASN][1000 genomes]
rs8126961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8131711	0.93[ASN][1000 genomes]
rs8131829	0.93[ASN][1000 genomes]
rs9305767	0.84[GIH][hapmap]
rs9305769	1.00[JPT][hapmap]
rs9975284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9976995	0.80[ASN][1000 genomes]
rs9977870	0.80[ASN][1000 genomes]
rs9979076	0.80[ASN][1000 genomes]
rs9979111	0.80[ASN][1000 genomes]
rs9981657	0.84[GIH][hapmap]
rs9982229	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9984639	0.84[GIH][hapmap]
rs9984970	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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17836800-17848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:17836800-17848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17837400-17848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:17838000-17850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17840400-17848200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:17840400-17860800	Weak transcription	HUVEC	blood vessel
7	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
8	chr21:17841400-17848200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:17845600-17847600	Enhancers	Adipose Nuclei	Adipose
10	chr21:17846000-17849400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:17846200-17847600	Enhancers	Brain Cingulate Gyrus	brain
12	chr21:17846200-17847600	Enhancers	Brain Substantia Nigra	brain
13	chr21:17846400-17847600	Enhancers	Brain Angular Gyrus	brain
14	chr21:17846600-17848600	Weak transcription	Colon Smooth Muscle	Colon
15	chr21:17846600-17848800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:17846600-17848800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:17846600-17859400	Weak transcription	Ovary	ovary
18	chr21:17846800-17848200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr21:17846800-17848400	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:17846800-17848600	Weak transcription	Fetal Heart	heart
21	chr21:17846800-17848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:17846800-17848800	Weak transcription	Fetal Lung	lung
23	chr21:17846800-17849600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:17846800-17864000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:17847000-17848400	Weak transcription	Brain Anterior Caudate	brain
26	chr21:17847000-17848800	Weak transcription	Osteobl	bone
27	chr21:17847200-17847600	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links