Variant report

Variant	rs56891486
Chromosome Location	chr12:4217168-4217169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4215784..4218050-chr12:4385145..4387428,2	K562	blood:
2	chr12:4216655..4217210-chr12:4385805..4386330,2	K562	blood:

Variant related genes	Relation type
ENSG00000256164	Chromatin interaction
ENSG00000118971	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11829820	1.00[AMR][1000 genomes]
rs11832475	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834077	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834174	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837775	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931100	1.00[AMR][1000 genomes]
rs16931124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931128	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931131	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36097138	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55787213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55825747	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55891544	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56773631	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57196809	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57485269	0.85[AFR][1000 genomes]
rs58564884	0.85[AFR][1000 genomes]
rs58592888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58736101	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58775468	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58927319	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59549730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59746697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59810408	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59914894	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59973578	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60036022	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60989334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257568	1.00[AMR][1000 genomes]
rs73257583	1.00[AMR][1000 genomes]
rs73257588	0.83[AMR][1000 genomes]
rs73257592	1.00[AMR][1000 genomes]
rs73257597	1.00[AMR][1000 genomes]
rs73257599	1.00[AMR][1000 genomes]
rs73257601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259530	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259545	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259546	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259548	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259551	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259553	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259574	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259577	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259578	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259581	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259591	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261546	0.83[AFR][1000 genomes]
rs74061519	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061522	1.00[AFR][1000 genomes];0.83[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	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4215400-4217400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:4215600-4217200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr12:4215800-4217200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:4216000-4224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:4216200-4217200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:4216400-4218600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:4216600-4217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:4216600-4224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:4216800-4217200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:4216800-4217200	Enhancers	HMEC	breast
11	chr12:4216800-4217200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:4216800-4225000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:4217000-4217400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:4217000-4218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:4217000-4219600	Enhancers	GM12878-XiMat	blood
16	chr12:4217000-4220000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:4217000-4220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:4217000-4221400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:4217000-4222200	Weak transcription	Fetal Thymus	thymus
20	chr12:4217000-4223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:4217000-4224000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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