Variant report

Variant	rs711367
Chromosome Location	chr5:126995591-126995592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1002214	0.80[EUR][1000 genomes]
rs1067705	0.80[EUR][1000 genomes]
rs34713863	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs711361	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs711362	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs711363	0.94[EUR][1000 genomes]
rs711364	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs711365	0.98[ASN][1000 genomes]
rs711366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs711369	0.80[EUR][1000 genomes]
rs790829	0.80[EUR][1000 genomes]
rs796919	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806464	0.84[EUR][1000 genomes];0.84[ASN][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv599664	chr5:126974071-127016256	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126988000-126996000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:126991400-126995800	Weak transcription	Fetal Stomach	stomach
3	chr5:126991400-127001800	Weak transcription	Fetal Lung	lung
4	chr5:126992600-126995600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:126992600-126995600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:126992600-126995600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:126992800-126995600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:126993400-126995600	Weak transcription	Psoas Muscle	Psoas
9	chr5:126994800-126996400	Enhancers	Fetal Kidney	kidney
10	chr5:126995200-126996400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:126995200-126996600	Enhancers	Colon Smooth Muscle	Colon
12	chr5:126995400-126996200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:126995400-126996400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:126995400-126996400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:126995400-126996400	Enhancers	Ovary	ovary
16	chr5:126995400-126996400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr5:126995400-126996600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:126995400-126996600	Enhancers	Fetal Heart	heart
19	chr5:126995400-126996600	Enhancers	Skeletal Muscle Male	skeletal 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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