Variant report

Variant	rs1722873
Chromosome Location	chr21:40850424-40850425
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40842346..40845248-chr21:40847999..40850536,2	K562	blood:
2	chr21:40845066..40847673-chr21:40849022..40851771,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11088476	0.81[EUR][1000 genomes]
rs1735136	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1735137	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063999	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2277788	0.81[EUR][1000 genomes]
rs2410157	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3787925	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827209	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4358205	0.80[EUR][1000 genomes]
rs4389391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4608607	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818037	0.81[ASN][1000 genomes]
rs6517551	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517552	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7277386	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs760284	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127431	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8129943	0.81[EUR][1000 genomes]
rs8130752	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs975479	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs975934	0.81[ASN][1000 genomes]
rs9975004	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9979083	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981674	0.85[ASN][1000 genomes]
rs9982529	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1067330	chr21:40841948-40879552	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2755103	chr21:40847196-40877805	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
4	chr21:40835600-40851000	Weak transcription	Ovary	ovary
5	chr21:40836200-40851000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:40836200-40852200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:40836400-40851400	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
9	chr21:40844800-40855800	Weak transcription	Adipose Nuclei	Adipose
10	chr21:40845000-40851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:40845000-40856600	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:40846800-40854600	Weak transcription	Psoas Muscle	Psoas
13	chr21:40846800-40862800	Weak transcription	Gastric	stomach
14	chr21:40848000-40851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:40848200-40851600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:40848200-40852200	Weak transcription	Brain Angular Gyrus	brain
17	chr21:40848200-40852400	Weak transcription	Brain Anterior Caudate	brain
18	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:40848400-40851400	Weak transcription	Brain Substantia Nigra	brain
20	chr21:40848400-40853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr21:40848400-40863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr21:40848400-40872400	Weak transcription	Left Ventricle	heart
23	chr21:40850400-40850800	Weak transcription	Fetal Heart	heart
24	chr21:40850400-40859200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links