Variant report

Variant	rs12333768
Chromosome Location	chr7:129441423-129441424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12333758	0.83[ASN][1000 genomes]
rs12672124	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2727513	0.91[ASN][1000 genomes]
rs28705185	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61581843	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62491470	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62491474	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491475	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491476	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73159678	0.84[AFR][1000 genomes];0.93[ASN][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	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
7	esv33085	chr7:129438848-129446659	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129436600-129444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129438000-129441800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:129438200-129444600	Weak transcription	Spleen	Spleen
4	chr7:129438400-129442000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:129438400-129443600	Weak transcription	Gastric	stomach
6	chr7:129439000-129441800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:129439400-129444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:129439600-129442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:129439800-129441800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:129441200-129445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:129441400-129442200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:129441400-129442600	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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