Variant report

Variant	rs6960055
Chromosome Location	chr7:27121635-27121636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11563293	1.00[AMR][1000 genomes]
rs11563452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564061	1.00[AMR][1000 genomes]
rs17154639	1.00[AMR][1000 genomes]
rs17154647	1.00[AMR][1000 genomes]
rs17464950	1.00[AMR][1000 genomes]
rs17464971	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17465076	1.00[AMR][1000 genomes]
rs17465282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17465309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17500092	1.00[AMR][1000 genomes]
rs17500326	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17500417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722649	1.00[AMR][1000 genomes]
rs4722650	1.00[AMR][1000 genomes]
rs4722651	1.00[AMR][1000 genomes]
rs6461981	1.00[AMR][1000 genomes]
rs6961068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 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	chr7:27118400-27122600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:27118800-27122600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:27118800-27122800	Enhancers	HMEC	breast
4	chr7:27119000-27122600	Enhancers	Hela-S3	cervix
5	chr7:27119200-27121800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:27119200-27127600	Weak transcription	Osteobl	bone
7	chr7:27119600-27125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:27120600-27122000	Enhancers	HSMMtube	muscle
9	chr7:27120800-27121800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:27120800-27122600	Enhancers	NHEK	skin
11	chr7:27121000-27122200	Weak transcription	HSMM	muscle
12	chr7:27121200-27122400	Weak transcription	A549	lung
13	chr7:27121400-27122400	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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