Variant report

Variant	rs73279290
Chromosome Location	chr12:45602633-45602634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45600294..45606822-chr12:45606984..45612571,15	K562	blood:
2	chr12:45601556..45603272-chr12:45608951..45610843,2	K562	blood:
3	chr12:45600941..45603033-chr12:45611069..45612571,2	K562	blood:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57266792	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57314223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57732899	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59569841	1.00[AMR][1000 genomes]
rs60840825	1.00[AMR][1000 genomes]
rs73275006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275009	1.00[AMR][1000 genomes]
rs73275021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279279	1.00[AMR][1000 genomes]
rs73279288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279680	1.00[AMR][1000 genomes]
rs73279683	1.00[AMR][1000 genomes]
rs73281306	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281425	1.00[AMR][1000 genomes]
rs73281431	1.00[AMR][1000 genomes]
rs73281450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281453	1.00[AMR][1000 genomes]
rs73281454	1.00[AMR][1000 genomes]
rs73293360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45595200-45608600	Weak transcription	Fetal Thymus	thymus
2	chr12:45595200-45608600	Weak transcription	Small Intestine	intestine
3	chr12:45595400-45608600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:45600000-45608600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:45600200-45607800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:45600200-45607800	Weak transcription	GM12878-XiMat	blood
7	chr12:45600200-45608000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:45600200-45608000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:45600200-45608600	Weak transcription	Thymus	Thymus
10	chr12:45600400-45603000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:45600400-45603000	Weak transcription	Liver	Liver
12	chr12:45600400-45608000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:45600400-45608200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:45600400-45608200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:45600400-45608400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:45601400-45603200	Enhancers	K562	blood
17	chr12:45601400-45603400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:45601400-45603400	Enhancers	HepG2	liver
19	chr12:45602200-45603400	Enhancers	A549	lung
20	chr12:45602400-45603200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:45602400-45603200	Enhancers	NHEK	skin
22	chr12:45602400-45603400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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