Variant report

Variant	rs73226290
Chromosome Location	chr12:121402691-121402692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10849823	0.91[EUR][1000 genomes]
rs10849824	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251556	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2254779	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2393777	0.85[EUR][1000 genomes]
rs4371007	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55956549	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7132164	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7135458	0.86[EUR][1000 genomes]
rs7303401	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73226268	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73226296	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228105	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228108	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7961178	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	23 gene(s)	inside rSNPs	diseases
6	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121394600-121408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121395800-121408200	Weak transcription	Fetal Kidney	kidney
3	chr12:121397600-121406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:121397800-121405400	Weak transcription	Pancreas	Pancrea
5	chr12:121399600-121403200	Weak transcription	Thymus	Thymus
6	chr12:121400000-121405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:121400000-121406600	Weak transcription	Gastric	stomach
8	chr12:121400400-121404800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:121400600-121403200	Weak transcription	Stomach Mucosa	stomach
10	chr12:121400600-121403400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:121400600-121404800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
13	chr12:121400800-121403600	Weak transcription	Colonic Mucosa	Colon
14	chr12:121400800-121406600	Weak transcription	A549	lung
15	chr12:121400800-121406600	Weak transcription	HepG2	liver
16	chr12:121401400-121403400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:121401600-121403600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:121401600-121406600	Weak transcription	Liver	Liver
19	chr12:121402400-121403600	Weak transcription	Esophagus	oesophagus

Quick Search:

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

what's new

Quick links