Variant report

Variant	rs849778
Chromosome Location	chr7:12644334-12644335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4555989	0.86[MEX][hapmap]
rs702476	0.80[EUR][1000 genomes]
rs849771	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs849772	0.80[EUR][1000 genomes]
rs849773	1.00[CEU][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs849774	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs849776	0.88[MEX][hapmap]
rs849777	0.80[EUR][1000 genomes]
rs849779	0.85[CEU][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs849786	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
8	nsv818483	chr7:12641202-12644502	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	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
10	esv2596299	chr7:12642629-12645751	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv519504	chr7:12643396-12644334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
12	nsv523581	chr7:12643396-12644502	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
13	nsv520866	chr7:12643396-12646473	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	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	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:12639800-12649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:12642400-12649200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12642800-12649400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:12644000-12644400	ZNF genes & repeats	K562	blood
8	chr7:12644000-12647000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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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