Variant report

Variant	rs12306744
Chromosome Location	chr12:40603719-40603720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11175139	0.84[YRI][hapmap]
rs11175629	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs11175659	0.85[AFR][1000 genomes]
rs11175663	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs12296317	0.85[AFR][1000 genomes]
rs12296596	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12296964	1.00[AFR][1000 genomes]
rs12300008	0.84[YRI][hapmap]
rs12304648	0.88[AFR][1000 genomes]
rs12305241	0.81[AFR][1000 genomes]
rs12307850	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12308447	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12312800	0.97[AFR][1000 genomes]
rs12313568	0.84[YRI][hapmap]
rs12314745	0.84[YRI][hapmap]
rs17489951	0.83[AFR][1000 genomes]
rs17490300	0.85[AFR][1000 genomes]
rs7132755	0.84[YRI][hapmap]
rs7135556	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40601400-40604400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:40601600-40604400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:40602000-40603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:40602200-40603800	Enhancers	GM12878-XiMat	blood
5	chr12:40602200-40604200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:40602200-40604200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:40602200-40604200	Enhancers	Fetal Kidney	kidney
8	chr12:40602200-40604400	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:40602400-40604000	Enhancers	A549	lung
10	chr12:40603000-40603800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr12:40603000-40604400	Enhancers	Hela-S3	cervix
12	chr12:40603200-40604000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:40603200-40604200	Enhancers	Colon Smooth Muscle	Colon
14	chr12:40603200-40605400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:40603400-40604600	Enhancers	Primary B cells from cord blood	blood
16	chr12:40603600-40603800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:40603600-40604000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:40603600-40604200	Enhancers	Brain Hippocampus Middle	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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