Variant report

Variant	rs10930723
Chromosome Location	chr2:152511778-152511779
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	chr2:152511087..152513556-chr2:152516616..152519080,2	K562	blood:
2	chr2:152511087..152512824-chr2:152516616..152519176,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10170273	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178880	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10193188	0.93[ASN][1000 genomes]
rs10930740	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11904536	0.85[EUR][1000 genomes]
rs12052828	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12328501	0.97[EUR][1000 genomes]
rs12616767	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12620077	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693090	0.81[EUR][1000 genomes]
rs13032138	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13404704	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13428975	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4271765	0.90[ASN][1000 genomes]
rs4289189	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4374369	0.88[ASN][1000 genomes]
rs4381781	0.89[ASN][1000 genomes]
rs4465763	0.82[EUR][1000 genomes]
rs4536649	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4564765	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4564766	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664494	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664497	0.82[EUR][1000 genomes]
rs5005569	0.82[EUR][1000 genomes]
rs58903550	0.80[ASN][1000 genomes]
rs6433566	0.82[EUR][1000 genomes]
rs6433569	0.93[ASN][1000 genomes]
rs6433575	0.88[ASN][1000 genomes]
rs6712443	0.80[ASN][1000 genomes]
rs6712533	0.80[ASN][1000 genomes]
rs6713162	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6715755	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6723129	0.87[ASN][1000 genomes]
rs6733811	0.94[ASN][1000 genomes]
rs6733909	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6734148	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6735208	0.81[EUR][1000 genomes]
rs6747113	0.86[ASN][1000 genomes]
rs7426114	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7564024	0.93[EUR][1000 genomes]
rs7564674	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9287990	0.86[AMR][1000 genomes];0.97[EUR][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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152500000-152512200	Weak transcription	Pancreas	Pancrea
2	chr2:152502200-152523000	Weak transcription	Placenta	Placenta
3	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:152507600-152521000	Weak transcription	Psoas Muscle	Psoas
6	chr2:152510800-152512400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:152510800-152514000	Strong transcription	HSMMtube	muscle
8	chr2:152510800-152515600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:152511200-152531200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr2:152511400-152511800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:152511400-152514200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:152511400-152531400	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:152511600-152512400	Weak transcription	K562	blood
14	chr2:152511600-152525800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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