Variant report

Variant	rs17408223
Chromosome Location	chr2:145772882-145772883
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145766027..145767852-chr2:145771285..145773781,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1406225	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550323	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17408272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256460	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2381684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59333087	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6722557	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7583863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs786245	0.80[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145770000-145780400	Weak transcription	Ovary	ovary
2	chr2:145770400-145773200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:145770400-145774400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
7	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:145770800-145773000	Weak transcription	Osteobl	bone
9	chr2:145770800-145774200	Weak transcription	Hela-S3	cervix
10	chr2:145770800-145774200	Weak transcription	NHDF-Ad	bronchial
11	chr2:145770800-145774800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:145770800-145776200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:145771200-145774400	Weak transcription	Aorta	Aorta
14	chr2:145771200-145782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:145771600-145773200	Weak transcription	A549	lung
16	chr2:145771800-145773000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:145771800-145773600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:145772800-145773000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:145772800-145773000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:145772800-145773200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:145772800-145773600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:145772800-145773600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:145772800-145773800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:145772800-145773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:145772800-145773800	Enhancers	NH-A	brain
26	chr2:145772800-145775600	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links