Variant report

Variant	rs16996454
Chromosome Location	chr4:96171155-96171156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96170637..96175521-chr4:96175696..96180371,8	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17023271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023280	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023283	1.00[AMR][1000 genomes]
rs17023289	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023302	1.00[AMR][1000 genomes]
rs17023315	1.00[AMR][1000 genomes]
rs56213435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56952424	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60269430	1.00[AMR][1000 genomes]
rs72881231	1.00[AMR][1000 genomes]
rs73837511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837513	1.00[AMR][1000 genomes]
rs73837514	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839929	1.00[AMR][1000 genomes]
rs7674572	1.00[AMR][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	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv879624	chr4:96147860-96183532	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879625	chr4:96147860-96189813	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 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	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
3	chr4:96154600-96172000	Weak transcription	Brain Substantia Nigra	brain
4	chr4:96154600-96176800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:96162000-96176800	Weak transcription	Brain Anterior Caudate	brain
6	chr4:96163800-96177200	Weak transcription	Aorta	Aorta
7	chr4:96164000-96171200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:96164000-96177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:96166400-96172400	Weak transcription	Spleen	Spleen
10	chr4:96166400-96177200	Weak transcription	Left Ventricle	heart
11	chr4:96169400-96171200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:96169400-96171800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:96169600-96171800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:96169800-96171400	Strong transcription	Fetal Lung	lung
15	chr4:96169800-96172000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:96170000-96171400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:96170200-96171400	Strong transcription	Brain Cingulate Gyrus	brain
18	chr4:96170400-96171400	Flanking Active TSS	K562	blood
19	chr4:96170600-96171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:96170600-96172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:96170800-96171600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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