Variant report

Variant	rs11958481
Chromosome Location	chr5:147279371-147279372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10477355	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956228	0.90[ASN][1000 genomes]
rs1432973	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17107413	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107421	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17625543	0.86[ASN][1000 genomes]
rs17703848	0.85[CEU][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1835968	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304067	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580505	0.92[AFR][1000 genomes]
rs6580506	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6580507	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6859879	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6862197	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889356	0.87[AFR][1000 genomes]
rs73263247	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706789	1.00[CEU][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7722416	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7722926	0.81[AMR][1000 genomes];0.98[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	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147272800-147279600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:147273000-147280600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:147273200-147280400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
5	chr5:147275600-147283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:147276200-147280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:147276800-147279800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:147277000-147279800	Enhancers	Hela-S3	cervix
9	chr5:147277400-147284800	Enhancers	NH-A	brain
10	chr5:147277800-147279600	Enhancers	HMEC	breast
11	chr5:147278000-147279600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:147278200-147279600	Enhancers	HUVEC	blood vessel
13	chr5:147278200-147279800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:147278400-147280400	Enhancers	Stomach Mucosa	stomach
15	chr5:147278800-147279400	Enhancers	Aorta	Aorta
16	chr5:147279000-147284800	Weak transcription	Osteobl	bone
17	chr5:147279200-147281000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:147279200-147281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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