Variant report

Variant	rs13393921
Chromosome Location	chr2:205523998-205523999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10168631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174665	1.00[EUR][1000 genomes]
rs10179131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190242	1.00[EUR][1000 genomes]
rs10199785	1.00[AMR][1000 genomes]
rs10199977	1.00[AMR][1000 genomes]
rs10207338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12328281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410864	1.00[AMR][1000 genomes]
rs13412778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13413975	1.00[AMR][1000 genomes]
rs13417497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17595379	1.00[EUR][1000 genomes]
rs28538804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28751884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34575634	1.00[EUR][1000 genomes]
rs60899945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059099	1.00[EUR][1000 genomes]
rs7591676	1.00[EUR][1000 genomes]
rs9653255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973966	0.81[AFR][1000 genomes];1.00[AMR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:205517200-205530000	Weak transcription	Ovary	ovary
3	chr2:205519400-205529400	Weak transcription	Fetal Heart	heart
4	chr2:205520000-205529200	Weak transcription	Fetal Lung	lung
5	chr2:205520200-205529200	Weak transcription	Esophagus	oesophagus
6	chr2:205520400-205528600	Weak transcription	NHLF	lung
7	chr2:205520400-205528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:205520800-205527800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:205520800-205527800	Weak transcription	HSMM	muscle
10	chr2:205520800-205527800	Weak transcription	HSMMtube	muscle
11	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
12	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
13	chr2:205521800-205529000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:205522000-205525200	Weak transcription	NHEK	skin
15	chr2:205522000-205528600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:205522000-205528600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:205522200-205527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:205522200-205530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:205523800-205528200	Weak transcription	Stomach Mucosa	stomach

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