Variant report

Variant	rs12534134
Chromosome Location	chr7:129444927-129444928
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:11)

rs_ID	r²[population]
rs12532959	1.00[AFR][1000 genomes]
rs12533953	1.00[AFR][1000 genomes]
rs1464970	1.00[AFR][1000 genomes]
rs34463221	1.00[AFR][1000 genomes]
rs34629832	1.00[AFR][1000 genomes]
rs55732825	1.00[AFR][1000 genomes]
rs55748031	1.00[AFR][1000 genomes]
rs55767113	1.00[AFR][1000 genomes]
rs55955026	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55995041	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56025626	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
2	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
5	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	esv33085	chr7:129438848-129446659	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv819865	chr7:129443525-129445605	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129441200-129445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:129442200-129445000	Weak transcription	K562	blood
3	chr7:129442600-129447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:129442800-129445200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:129443600-129445600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:129443600-129445600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:129443600-129445600	Enhancers	Gastric	stomach
8	chr7:129443800-129445600	Enhancers	Placenta	Placenta
9	chr7:129444000-129445400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:129444200-129445200	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr7:129444200-129445600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:129444600-129445400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:129444600-129445600	Enhancers	Fetal Heart	heart
14	chr7:129444600-129445600	Enhancers	Right Ventricle	heart
15	chr7:129444600-129445600	Enhancers	Hela-S3	cervix
16	chr7:129444800-129445200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr7:129444800-129445200	Enhancers	Right Atrium	heart
18	chr7:129444800-129445600	Enhancers	Left Ventricle	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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