Variant report

Variant	rs324571
Chromosome Location	chr7:136765453-136765454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10081199	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10081306	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10242429	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10254896	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1972683	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28562122	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28590034	0.97[ASN][1000 genomes]
rs28810425	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs324569	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391952	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs444116	0.84[AMR][1000 genomes];0.84[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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv889237	chr7:136715167-136793350	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1028902	chr7:136727136-136858804	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv608462	chr7:136746607-136839390	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136760200-136765600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:136760200-136765600	Weak transcription	Ovary	ovary
3	chr7:136760200-136765600	Weak transcription	NH-A	brain
4	chr7:136764200-136771600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:136764400-136766400	Weak transcription	HMEC	breast
6	chr7:136764800-136767200	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:136765000-136765600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:136765200-136766400	Enhancers	NHDF-Ad	bronchial
9	chr7:136765200-136767600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:136765200-136767600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:136765200-136767600	Enhancers	Osteobl	bone
12	chr7:136765200-136767800	Enhancers	Colon Smooth Muscle	Colon
13	chr7:136765400-136766200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:136765400-136767400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:136765400-136767400	Enhancers	Adipose Nuclei	Adipose
16	chr7:136765400-136767400	Enhancers	NHLF	lung
17	chr7:136765400-136767600	Enhancers	Fetal Stomach	stomach
18	chr7:136765400-136767600	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:136765400-136769800	Enhancers	Fetal Heart	heart

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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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