Variant report

Variant	rs12672124
Chromosome Location	chr7:129437918-129437919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12333758	0.81[AFR][1000 genomes]
rs12333768	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28705185	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56848593	0.82[AFR][1000 genomes]
rs61581843	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62491470	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62491474	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62491475	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62491476	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129435400-129438000	Weak transcription	Spleen	Spleen
2	chr7:129435800-129439600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129436000-129440600	Enhancers	Fetal Muscle Leg	muscle
4	chr7:129436200-129438000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:129436200-129438400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:129436400-129439000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:129436400-129439200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:129436600-129438600	Enhancers	Fetal Stomach	stomach
9	chr7:129436600-129444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129436800-129438400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:129436800-129439400	Enhancers	Fetal Muscle Trunk	muscle
12	chr7:129437000-129438000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:129437000-129438000	Enhancers	Colon Smooth Muscle	Colon
14	chr7:129437000-129439200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:129437600-129438200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:129437600-129438800	Enhancers	HSMMtube	muscle
17	chr7:129437800-129438400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:129437800-129438600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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