Variant report

Variant	rs4848289
Chromosome Location	chr2:113436181-113436182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113434895..113436414-chr2:113437181..113439821,2	K562	blood:
2	chr2:113435569..113437643-chr2:113447893..113450101,2	MCF-7	breast:
3	chr2:113397350..113406961-chr2:113434420..113455729,52	K562	blood:

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10172772	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779885	0.82[ASN][1000 genomes]
rs11676751	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680181	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11682676	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12467747	0.82[ASN][1000 genomes]
rs4261730	0.82[ASN][1000 genomes]
rs4848287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849101	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4849102	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55801413	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6711158	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6728935	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7589655	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr2:113421400-113448400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113421600-113438400	Weak transcription	Psoas Muscle	Psoas
3	chr2:113422800-113437000	Weak transcription	HMEC	breast
4	chr2:113422800-113438200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:113423200-113437000	Weak transcription	Lung	lung
6	chr2:113423200-113445000	Weak transcription	Fetal Brain Male	brain
7	chr2:113423400-113437000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:113423400-113448400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:113428400-113436800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113432600-113436200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113432600-113436800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:113432600-113437000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:113432600-113437000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:113432600-113437000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:113432600-113439400	Weak transcription	Placenta	Placenta
16	chr2:113432600-113440800	Weak transcription	Spleen	Spleen
17	chr2:113432800-113437000	Weak transcription	HUVEC	blood vessel
18	chr2:113433000-113437000	Weak transcription	K562	blood
19	chr2:113433000-113438200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:113434400-113437000	Weak transcription	Hela-S3	cervix
21	chr2:113434800-113437000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:113436000-113438200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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