Variant report

Variant	rs12328905
Chromosome Location	chr2:149163092-149163093
allele	G/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:4)

rs_ID	r²[population]
rs13402009	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404516	1.00[AMR][1000 genomes]
rs56411238	1.00[AMR][1000 genomes]
rs73965368	0.86[AFR][1000 genomes];1.00[AMR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149147000-149166800	Weak transcription	Pancreas	Pancrea
2	chr2:149148600-149178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:149151800-149168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:149153000-149163400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:149154000-149166800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:149154400-149166200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:149154400-149172000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:149157000-149165200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:149162400-149171400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:149162600-149165000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:149163000-149163200	Enhancers	Aorta	Aorta
12	chr2:149163000-149163200	Enhancers	Gastric	stomach
13	chr2:149163000-149163200	ZNF genes & repeats	Left Ventricle	heart
14	chr2:149163000-149163200	Enhancers	Spleen	Spleen

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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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