Variant report

Variant	rs849769
Chromosome Location	chr7:12637111-12637112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2529782	0.93[CEU][hapmap];0.85[CHB][hapmap]
rs2691810	0.87[CEU][hapmap]
rs7806833	1.00[ASN][1000 genomes]
rs849757	0.81[EUR][1000 genomes]
rs849759	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs849764	0.93[CEU][hapmap]
rs849766	0.93[CEU][hapmap]
rs849770	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs849782	0.85[CHB][hapmap]
rs849784	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs849785	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs849792	0.93[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs849793	0.93[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs849794	0.81[EUR][1000 genomes]
rs849796	0.82[EUR][1000 genomes]
rs849798	0.93[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs849799	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs849802	0.81[EUR][1000 genomes]
rs849803	0.93[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1020242	chr7:12605593-12641202	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527833	chr7:12632085-12644502	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12611800-12637600	Weak transcription	Colonic Mucosa	Colon
2	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:12626200-12637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12635600-12637200	Enhancers	Placenta	Placenta
7	chr7:12636200-12638800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:12637000-12637200	Enhancers	Adipose Nuclei	Adipose
9	chr7:12637000-12644000	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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