Variant report

Variant	rs12467297
Chromosome Location	chr2:149152094-149152095
allele	C/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:13)

rs_ID	r²[population]
rs10209310	0.82[EUR][1000 genomes]
rs10497033	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12475363	0.82[EUR][1000 genomes]
rs13419981	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13430177	0.80[EUR][1000 genomes]
rs16828574	0.80[AFR][1000 genomes]
rs59484792	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62183967	0.80[AFR][1000 genomes]
rs62183970	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62184001	0.80[EUR][1000 genomes]
rs62184002	0.80[EUR][1000 genomes]
rs72859377	0.80[EUR][1000 genomes]
rs7355337	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv583289	chr2:149091754-149170115	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875279	chr2:149111470-149201775	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875280	chr2:149115432-149198275	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv875281	chr2:149115432-149206943	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv583290	chr2:149117734-149170115	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr2:149137200-149152600	Weak transcription	Primary T cells from cord blood	blood
2	chr2:149143200-149154800	Weak transcription	Fetal Lung	lung
3	chr2:149145000-149163000	Weak transcription	Left Ventricle	heart
4	chr2:149147000-149166800	Weak transcription	Pancreas	Pancrea
5	chr2:149148400-149155800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:149148400-149155800	Weak transcription	Psoas Muscle	Psoas
7	chr2:149148600-149178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:149150400-149163000	Weak transcription	Aorta	Aorta
9	chr2:149150800-149153400	Weak transcription	GM12878-XiMat	blood
10	chr2:149151000-149158000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:149151400-149153800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:149151800-149153800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:149151800-149154400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:149151800-149168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:149152000-149163000	Weak transcription	Gastric	stomach

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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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