Variant report

Variant	rs43222
Chromosome Location	chr7:79945821-79945822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13224358	0.90[ASN][1000 genomes]
rs304732	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs306728	0.97[ASN][1000 genomes]
rs37919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs37921	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37929	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37930	0.97[ASN][1000 genomes]
rs37935	0.82[JPT][hapmap]
rs37936	0.82[JPT][hapmap]
rs4731318	0.86[ASN][1000 genomes]
rs4731329	0.90[ASN][1000 genomes]
rs4731336	0.96[ASN][1000 genomes]
rs475103	0.86[ASN][1000 genomes]
rs493722	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504540	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs579611	0.90[ASN][1000 genomes]
rs601671	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs623820	0.92[ASN][1000 genomes]
rs673193	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:79941800-79946000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:79941800-79946600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:79942000-79947000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:79942800-79952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:79943000-79947200	Weak transcription	HMEC	breast
7	chr7:79943800-79946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:79943800-79946800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:79943800-79947600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:79943800-79952600	Weak transcription	NHEK	skin
11	chr7:79945600-79946400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:79945800-79946600	Enhancers	HUVEC	blood vessel
13	chr7:79945800-79947600	Enhancers	Fetal Intestine Large	intestine

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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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