Variant report

Variant	rs7305229
Chromosome Location	chr12:50260264-50260265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10875980	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10875982	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169176	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169182	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7299134	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7302855	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7303074	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7316671	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7316688	0.89[AMR][1000 genomes];0.90[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50237600-50261200	Weak transcription	Right Atrium	heart
2	chr12:50258000-50261200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:50258400-50260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:50258400-50260800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:50258400-50261000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:50258600-50260600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:50258600-50260600	Weak transcription	HSMM	muscle
8	chr12:50258600-50260800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:50258600-50260800	Weak transcription	Esophagus	oesophagus
10	chr12:50258600-50261000	Weak transcription	Fetal Heart	heart
11	chr12:50258800-50260600	Weak transcription	Fetal Brain Female	brain
12	chr12:50259200-50260600	Weak transcription	HSMMtube	muscle
13	chr12:50260000-50260600	Weak transcription	Fetal Brain Male	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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