Variant report

Variant	rs13223489
Chromosome Location	chr7:136768535-136768536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10228919	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12113753	0.86[EUR][1000 genomes]
rs12375109	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13229637	0.87[EUR][1000 genomes]
rs13246547	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17168896	0.87[EUR][1000 genomes]
rs34093134	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34634747	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34649110	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34907276	0.87[EUR][1000 genomes]
rs35219717	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35319640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35568948	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35681063	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36078565	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67532040	0.87[EUR][1000 genomes]
rs71541337	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71541338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73447194	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv889237	chr7:136715167-136793350	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1028902	chr7:136727136-136858804	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv608462	chr7:136746607-136839390	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136764200-136771600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:136765400-136769800	Enhancers	Fetal Heart	heart
3	chr7:136766800-136771600	Weak transcription	HMEC	breast
4	chr7:136767200-136768800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:136767400-136769200	Weak transcription	NHLF	lung
6	chr7:136767600-136768800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:136767600-136769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:136767600-136769000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:136767600-136769000	Weak transcription	Fetal Stomach	stomach
10	chr7:136767600-136769400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:136767600-136769400	Weak transcription	Osteobl	bone
12	chr7:136767600-136769600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:136767800-136768800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:136767800-136768800	Weak transcription	Fetal Brain Male	brain

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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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