Variant report

Variant	rs11950866
Chromosome Location	chr5:167160183-167160184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11947990	1.00[AMR][1000 genomes]
rs2112311	1.00[AMR][1000 genomes]
rs56017321	1.00[AMR][1000 genomes]
rs58950178	1.00[AMR][1000 genomes]
rs6892870	1.00[AMR][1000 genomes]
rs73801315	1.00[AMR][1000 genomes]
rs73801316	1.00[AMR][1000 genomes]
rs73801361	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7736522	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167152600-167170000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:167153000-167165800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:167156000-167160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:167157400-167160800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:167157800-167170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:167158000-167170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:167158000-167170000	Weak transcription	NH-A	brain
8	chr5:167158000-167170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:167158400-167163600	Weak transcription	NHEK	skin
10	chr5:167158600-167160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:167158800-167170800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:167159200-167171000	Weak transcription	HSMM	muscle
13	chr5:167160000-167160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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