Variant report

Variant	rs12743565
Chromosome Location	chr1:90973994-90973995
allele	A/G
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:12)

rs_ID	r²[population]
rs1004440	1.00[ASN][1000 genomes]
rs12723369	1.00[ASN][1000 genomes]
rs12724553	1.00[ASN][1000 genomes]
rs12724648	1.00[ASN][1000 genomes]
rs12732838	1.00[ASN][1000 genomes]
rs12734840	1.00[ASN][1000 genomes]
rs12752313	1.00[ASN][1000 genomes]
rs12754978	1.00[ASN][1000 genomes]
rs34919097	1.00[ASN][1000 genomes]
rs699535	1.00[ASN][1000 genomes]
rs71666253	1.00[ASN][1000 genomes]
rs71666259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394726	chr1:90811671-91019675	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1801569	chr1:90819992-90983299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv1808806	chr1:90819992-90983299	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv1822918	chr1:90819992-90983299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv1850863	chr1:90819992-90983299	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2757740	chr1:90819992-90983299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv2758949	chr1:90819992-90983299	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv427697	chr1:90819992-90983299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv428124	chr1:90819992-90983299	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv1811797	chr1:90819992-91008105	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90966800-90974800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:90968000-90975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:90968800-90974200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:90971800-90975600	Weak transcription	Dnd41	blood
5	chr1:90973600-90974400	Enhancers	Gastric	stomach
6	chr1:90973600-90976600	Enhancers	Fetal Intestine Large	intestine
7	chr1:90973800-90975400	Enhancers	Stomach Mucosa	stomach
8	chr1:90973800-90976800	Enhancers	Fetal Intestine Small	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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