Variant report

Variant	rs12307850
Chromosome Location	chr12:40531064-40531065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11174688	0.83[YRI][hapmap]
rs11175139	0.83[YRI][hapmap]
rs11175629	0.83[YRI][hapmap]
rs11175663	0.83[YRI][hapmap]
rs12296317	0.80[AFR][1000 genomes]
rs12296596	1.00[ASW][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12296964	0.83[AFR][1000 genomes]
rs12300008	0.83[YRI][hapmap]
rs12306744	0.83[AFR][1000 genomes]
rs12308447	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12312800	0.86[AFR][1000 genomes]
rs12313568	0.83[YRI][hapmap]
rs12314745	0.83[YRI][hapmap]
rs17489964	0.89[AFR][1000 genomes]
rs17490300	0.80[AFR][1000 genomes]
rs28370644	0.83[YRI][hapmap]
rs7132755	0.83[YRI][hapmap]
rs7309328	0.83[YRI][hapmap]

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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40530600-40531400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:40530600-40531400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:40530600-40531600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:40530600-40531600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:40530800-40531200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:40530800-40531400	Enhancers	GM12878-XiMat	blood
7	chr12:40530800-40532000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:40531000-40531400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:40531000-40531400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:40531000-40531400	Enhancers	HUVEC	blood vessel
11	chr12:40531000-40531600	Enhancers	Primary B cells from cord blood	blood

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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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