Variant report

Variant	rs73280549
Chromosome Location	chr7:14060479-14060480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56832501	1.00[AMR][1000 genomes]
rs57629796	1.00[AMR][1000 genomes]
rs57945458	1.00[AMR][1000 genomes]
rs58038849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59026260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60121963	1.00[AMR][1000 genomes]
rs60254140	1.00[AMR][1000 genomes]
rs6942961	1.00[AMR][1000 genomes]
rs73263807	1.00[AMR][1000 genomes]
rs73263818	1.00[AMR][1000 genomes]
rs73280542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280574	1.00[AMR][1000 genomes]
rs73679257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7781184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7797543	0.94[AFR][1000 genomes];1.00[AMR][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	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14050200-14070800	Weak transcription	K562	blood
2	chr7:14059800-14061200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:14059800-14061800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:14060000-14061000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:14060000-14061200	Enhancers	HMEC	breast
6	chr7:14060200-14060600	Enhancers	NH-A	brain
7	chr7:14060200-14060800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:14060200-14061200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:14060200-14061200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:14060200-14061200	Enhancers	Osteobl	bone
11	chr7:14060200-14061400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:14060400-14061000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:14060400-14061000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:14060400-14061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:14060400-14061200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:14060400-14061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:14060400-14061400	Enhancers	NHEK	skin

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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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