Variant report

Variant	rs72889654
Chromosome Location	chr2:48622626-48622627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48620898..48623309-chr2:48624782..48626327,2	K562	blood:
2	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10180074	1.00[EUR][1000 genomes]
rs13394813	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28581888	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56739727	1.00[EUR][1000 genomes]
rs57960206	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58619347	1.00[EUR][1000 genomes]
rs59217824	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60519998	1.00[EUR][1000 genomes]
rs61592994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62137020	0.85[AFR][1000 genomes]
rs67567718	0.86[AFR][1000 genomes]
rs6757714	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889641	0.84[AFR][1000 genomes]
rs72889649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7583717	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619200-48622800	Weak transcription	HepG2	liver
2	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:48619400-48622800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:48619400-48623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:48619400-48623000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:48619400-48624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:48619600-48624400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:48621200-48623600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:48622400-48623000	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr2:48622600-48622800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:48622600-48622800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:48622600-48622800	Enhancers	Dnd41	blood
17	chr2:48622600-48623200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:48622600-48623400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:48622600-48623600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:48622600-48623600	Enhancers	Primary T helper cells PMA-I stimulated	--

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