Variant report

Variant	rs8063978
Chromosome Location	chr16:31271700-31271701
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	chr16:31117662..31120413-chr16:31270812..31272683,2	MCF-7	breast:
2	chr16:31270699..31273371-chr16:31276561..31278848,2	K562	blood:

Variant related genes	Relation type
ENSG00000103507	Chromatin interaction
ENSG00000252876	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10871455	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs12920848	0.89[AMR][1000 genomes]
rs12934814	0.89[AMR][1000 genomes]
rs1423934	1.00[AMR][1000 genomes]
rs2081224	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2098730	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3948508	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41374952	1.00[AMR][1000 genomes]
rs41441649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4265814	0.81[AFR][1000 genomes]
rs4889541	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889637	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4889638	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4889641	0.89[AMR][1000 genomes]
rs4889642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889643	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565221	0.80[LWK][hapmap];1.00[AMR][1000 genomes]
rs7192718	0.89[AMR][1000 genomes]
rs7194882	0.83[LWK][hapmap];1.00[MEX][hapmap]
rs8045402	1.00[MEX][hapmap]
rs8056264	0.90[ASW][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap]
rs8058958	1.00[MEX][hapmap]
rs889552	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs929867	0.80[LWK][hapmap];0.81[MKK][hapmap];1.00[AMR][1000 genomes]
rs9929801	1.00[MEX][hapmap]

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	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31262800-31271800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:31265200-31276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:31265800-31276400	Weak transcription	A549	lung
4	chr16:31269800-31277800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:31270400-31273800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr16:31270400-31275000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr16:31270800-31272000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:31270800-31272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:31270800-31272200	Enhancers	Spleen	Spleen
10	chr16:31271000-31271800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr16:31271000-31272200	Flanking Active TSS	GM12878-XiMat	blood
12	chr16:31271000-31272600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:31271000-31272600	Enhancers	K562	blood
14	chr16:31271000-31273200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr16:31271200-31271800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr16:31271200-31272000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr16:31271200-31272000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:31271200-31272200	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr16:31271200-31276400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:31271400-31271800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr16:31271400-31272200	Active TSS	Adipose Nuclei	Adipose
22	chr16:31271400-31272200	Active TSS	Left Ventricle	heart
23	chr16:31271400-31272200	Active TSS	Right Atrium	heart
24	chr16:31271400-31272400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr16:31271400-31272400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr16:31271400-31272400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr16:31271400-31276000	Weak transcription	Fetal Thymus	thymus
28	chr16:31271600-31271800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:31271600-31271800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr16:31271600-31271800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr16:31271600-31272000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr16:31271600-31272000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
33	chr16:31271600-31272200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:31271600-31272200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr16:31271600-31272200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:31271600-31272200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr16:31271600-31272200	Active TSS	Placenta	Placenta
38	chr16:31271600-31272200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr16:31271600-31272400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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