Variant report

Variant	rs6970223
Chromosome Location	chr7:40586066-40586067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11973745	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11974721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35407856	0.89[AFR][1000 genomes]
rs35785820	1.00[AMR][1000 genomes]
rs6950155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7786148	1.00[AMR][1000 genomes]
rs7807751	0.89[AFR][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:40578200-40586400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:40580800-40587000	Enhancers	NHDF-Ad	bronchial
3	chr7:40584200-40586400	Weak transcription	Aorta	Aorta
4	chr7:40584400-40589800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:40584600-40587000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:40585000-40586200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:40585000-40586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:40585000-40591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:40585000-40591800	Weak transcription	Fetal Stomach	stomach
10	chr7:40585200-40586200	Weak transcription	Osteobl	bone
11	chr7:40585200-40591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:40585400-40588600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:40585600-40586200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:40585600-40590400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:40585600-40591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:40585600-40591200	Weak transcription	Fetal Kidney	kidney
17	chr7:40585800-40586600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:40585800-40591000	Weak transcription	Fetal Lung	lung

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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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