Variant report

Variant	rs2248348
Chromosome Location	chr4:147300931-147300932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs2244316	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244318	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244840	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248347	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248826	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2255242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256112	1.00[AMR][1000 genomes]
rs2262884	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460033	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630284	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630285	0.87[YRI][hapmap]
rs2630292	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630294	1.00[AMR][1000 genomes]
rs2630299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630300	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2630304	0.83[YRI][hapmap]
rs2630306	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679121	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679128	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2679130	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2679131	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2679134	1.00[AMR][1000 genomes]
rs2679135	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2679145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679153	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679160	1.00[AMR][1000 genomes]
rs4027057	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494546	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404214	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816058	0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950672	1.00[AMR][1000 genomes]
rs72950679	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950681	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950684	1.00[AMR][1000 genomes]
rs72950690	1.00[AMR][1000 genomes]
rs72950697	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952506	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952508	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952510	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952511	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952513	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952515	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
2	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:147298600-147302400	Weak transcription	GM12878-XiMat	blood
4	chr4:147300400-147301200	Enhancers	Stomach Mucosa	stomach
5	chr4:147300400-147302400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:147300600-147302400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:147300600-147328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:147300800-147301600	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links