Variant report

Variant	rs11054800
Chromosome Location	chr12:12468058-12468059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7297852	0.92[ASN][1000 genomes]
rs7963823	0.99[ASN][1000 genomes]
rs7964141	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7964505	0.90[EUR][1000 genomes]
rs7966994	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12459400-12469400	Enhancers	Liver	Liver
2	chr12:12462400-12472600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:12464400-12472400	Weak transcription	Colonic Mucosa	Colon
4	chr12:12465600-12469400	Enhancers	Fetal Intestine Large	intestine
5	chr12:12465800-12469400	Enhancers	Fetal Intestine Small	intestine
6	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:12466600-12469400	Enhancers	Hela-S3	cervix
8	chr12:12466800-12468400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
10	chr12:12467400-12468800	Weak transcription	Stomach Mucosa	stomach
11	chr12:12467600-12468400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:12467600-12469400	Enhancers	HepG2	liver
13	chr12:12467600-12472600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:12468000-12468400	Enhancers	Pancreas	Pancrea
15	chr12:12468000-12472800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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