Variant report

Variant	rs2708416
Chromosome Location	chr12:40586161-40586162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1388585	0.85[YRI][hapmap]
rs2244159	0.90[AFR][1000 genomes]
rs2244534	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2244780	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2253021	0.86[AFR][1000 genomes]
rs2253171	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2253867	0.86[AFR][1000 genomes]
rs2638223	0.86[AFR][1000 genomes]
rs2638235	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638236	1.00[AFR][1000 genomes]
rs2638237	1.00[AFR][1000 genomes]
rs2638240	1.00[AFR][1000 genomes]
rs2638241	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638242	0.90[AFR][1000 genomes]
rs2638243	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638261	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs2638265	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708403	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708405	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708406	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708410	1.00[AFR][1000 genomes]
rs2708411	0.87[AFR][1000 genomes]
rs2708415	1.00[AFR][1000 genomes]
rs2708460	0.86[AFR][1000 genomes]
rs2708461	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708462	1.00[AFR][1000 genomes]
rs2708471	1.00[AFR][1000 genomes]
rs2708475	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs2708483	1.00[AFR][1000 genomes]
rs2708484	0.85[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40585600-40587200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:40585800-40587000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:40585800-40587200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:40585800-40587400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:40586000-40586200	Enhancers	GM12878-XiMat	blood
6	chr12:40586000-40586400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:40586000-40586800	Enhancers	Primary B cells from cord blood	blood
8	chr12:40586000-40586800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:40586000-40587000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:40586000-40587000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:40586000-40587400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:40586000-40587600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	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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