Variant report

Variant	rs56826338
Chromosome Location	chr7:47695274-47695275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16881566	1.00[AMR][1000 genomes]
rs57761869	1.00[EUR][1000 genomes]
rs73697714	1.00[EUR][1000 genomes]
rs73697717	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73697722	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73697723	1.00[AMR][1000 genomes]
rs73697725	1.00[AMR][1000 genomes]
rs73697726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47690600-47695600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:47693200-47695400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:47693200-47695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:47693200-47695400	Enhancers	Placenta	Placenta
5	chr7:47693400-47695400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:47693800-47695400	Enhancers	A549	lung
7	chr7:47693800-47697800	Weak transcription	HepG2	liver
8	chr7:47694400-47695400	Enhancers	Adipose Nuclei	Adipose
9	chr7:47694600-47700800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:47694800-47699000	Weak transcription	Spleen	Spleen
11	chr7:47695000-47698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:47695000-47699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:47695200-47695400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:47695200-47696600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:47695200-47698600	Weak transcription	HSMMtube	muscle

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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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