Variant report

Variant	rs1596513
Chromosome Location	chr12:41126383-41126384
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10748141	0.84[AFR][1000 genomes]
rs10879094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1579212	1.00[AMR][1000 genomes]
rs1584092	0.84[AFR][1000 genomes]
rs1584099	0.84[AFR][1000 genomes]
rs1596510	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1596512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1596530	0.84[AFR][1000 genomes]
rs1596540	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581919	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7313099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7487223	0.84[AFR][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	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41122200-41127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:41122200-41127800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:41122800-41129600	Weak transcription	A549	lung
4	chr12:41125800-41127400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:41126000-41126600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:41126000-41127600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:41126000-41127600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:41126000-41127800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:41126200-41130000	Enhancers	iPS-15b 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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