Variant report

Variant	rs12328374
Chromosome Location	chr2:208989708-208989709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008487	0.89[EUR][1000 genomes]
rs1470826	0.92[CEU][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2601478	0.86[EUR][1000 genomes]
rs2601479	0.89[EUR][1000 genomes]
rs2601481	0.89[EUR][1000 genomes]
rs2854712	0.89[EUR][1000 genomes]
rs34334031	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34472829	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733619	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62192856	0.88[EUR][1000 genomes]
rs6435414	0.81[AMR][1000 genomes]
rs6435415	0.81[AMR][1000 genomes]
rs6732496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs966932	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208984600-208994200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:208988200-208990400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:208988400-208989800	Active TSS	Fetal Brain Female	brain
4	chr2:208988400-208990000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:208988600-208989800	Active TSS	Brain Anterior Caudate	brain
6	chr2:208988800-208989800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr2:208988800-208989800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:208989200-208989800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:208989400-208989800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:208989400-208989800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr2:208989400-208990800	Enhancers	Fetal Intestine Large	intestine
12	chr2:208989400-208990800	Enhancers	Fetal Intestine Small	intestine
13	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea
14	chr2:208989600-208989800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:208989600-208989800	Active TSS	Primary hematopoietic stem cells	blood
16	chr2:208989600-208989800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr2:208989600-208990000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:208989600-208990400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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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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