Variant report

Variant	rs849789
Chromosome Location	chr7:12651505-12651506
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs702476	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs849772	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs849775	0.90[AMR][1000 genomes]
rs849777	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs849779	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs849780	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849781	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs849783	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849786	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849787	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849788	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849791	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849795	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs849800	0.90[AMR][1000 genomes];0.96[EUR][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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv606232	chr7:12641202-12653420	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:12649800-12651800	Weak transcription	K562	blood
4	chr7:12649800-12652000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:12650000-12660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12651000-12651800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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

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