Variant report

Variant	rs2540129
Chromosome Location	chr12:4318739-4318740
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:16)

rs_ID	r²[population]
rs10774207	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2430413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534776	1.00[EUR][1000 genomes]
rs2534777	1.00[EUR][1000 genomes]
rs2534778	1.00[EUR][1000 genomes]
rs2534779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534782	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534786	1.00[EUR][1000 genomes]
rs2540122	1.00[EUR][1000 genomes]
rs2540123	1.00[EUR][1000 genomes]
rs7964101	1.00[EUR][1000 genomes]
rs7974877	1.00[EUR][1000 genomes]
rs7976361	1.00[EUR][1000 genomes]
rs7980172	1.00[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr12:4313800-4319200	Weak transcription	GM12878-XiMat	blood
2	chr12:4314600-4323200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:4316000-4320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4317800-4319400	Enhancers	Primary B cells from cord blood	blood
5	chr12:4317800-4319600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:4317800-4319600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:4318000-4318800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr12:4318600-4318800	Bivalent Enhancer	Fetal Lung	lung
9	chr12:4318600-4323600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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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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