Variant report

Variant	rs7194248
Chromosome Location	chr16:71291765-71291766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10438559	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58157908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60490099	1.00[AFR][1000 genomes]
rs60623903	0.95[AFR][1000 genomes]
rs60929466	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499499	1.00[AMR][1000 genomes]
rs7196435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048483	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1860	chr16:71269156-71313852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71289800-71292400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:71290000-71292200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:71290000-71294000	Enhancers	Primary T cells from cord blood	blood
4	chr16:71290200-71291800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:71290200-71292400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr16:71290200-71294800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:71290200-71317200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:71290400-71292400	Weak transcription	Fetal Brain Female	brain
9	chr16:71290800-71292000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:71291000-71292600	Weak transcription	Fetal Muscle Leg	muscle
11	chr16:71291000-71294400	Weak transcription	Brain Substantia Nigra	brain
12	chr16:71291000-71295000	Weak transcription	Brain Germinal Matrix	brain
13	chr16:71291600-71291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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