Variant report

Variant	rs2222999
Chromosome Location	chr21:41425831-41425832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41150987..41153241-chr21:41424268..41426163,2	MCF-7	breast:
2	chr21:41425806..41428371-chr21:41490986..41493466,2	MCF-7	breast:
3	chr21:41416823..41418330-chr21:41423023..41425873,2	MCF-7	breast:
4	chr21:41424851..41427690-chr21:41488709..41491459,2	MCF-7	breast:
5	chr21:41425304..41429090-chr21:41430409..41436331,6	MCF-7	breast:
6	chr21:41424974..41427053-chr21:41456157..41458789,2	MCF-7	breast:
7	chr21:41417842..41420544-chr21:41423404..41426332,2	MCF-7	breast:
8	chr21:41424814..41426384-chr21:41755484..41757215,2	MCF-7	breast:
9	chr21:41424959..41427753-chr21:41689262..41692026,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10470191	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410204	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410205	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837381	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837385	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2837393	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837395	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837398	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2837399	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837401	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837403	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2837404	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4239808	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4816672	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57847480	0.81[ASN][1000 genomes]
rs8131708	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8133326	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41411200-41428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:41418600-41427600	Enhancers	Rectal Smooth Muscle	rectum
3	chr21:41419800-41426200	Weak transcription	Right Ventricle	heart
4	chr21:41420800-41426200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:41420800-41435600	Weak transcription	Aorta	Aorta
6	chr21:41421800-41435400	Weak transcription	Right Atrium	heart
7	chr21:41422000-41426800	Weak transcription	Fetal Lung	lung
8	chr21:41422200-41426200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:41422400-41426000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:41423400-41427200	Enhancers	Colon Smooth Muscle	Colon
11	chr21:41423800-41426800	Enhancers	Fetal Brain Male	brain
12	chr21:41423800-41427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:41423800-41427200	Enhancers	Stomach Smooth Muscle	stomach
14	chr21:41424400-41426600	Enhancers	Fetal Brain Female	brain
15	chr21:41424400-41427400	Enhancers	Fetal Stomach	stomach
16	chr21:41424600-41426800	Enhancers	Left Ventricle	heart
17	chr21:41425200-41428400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:41425400-41426200	Weak transcription	Brain Anterior Caudate	brain
19	chr21:41425400-41426600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr21:41425600-41426200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr21:41425600-41426800	Enhancers	Gastric	stomach
22	chr21:41425800-41428600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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