Variant report

Variant	rs4551416
Chromosome Location	chr8:10293754-10293755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10086673	0.80[EUR][1000 genomes]
rs11250014	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12114576	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550066	0.84[AMR][1000 genomes]
rs4483204	0.81[AMR][1000 genomes]
rs4559290	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4602940	0.81[AFR][1000 genomes]
rs4840484	0.87[ASN][1000 genomes]
rs7011215	0.82[AMR][1000 genomes]
rs7819930	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10282600-10295200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:10282800-10293800	Weak transcription	Primary T cells from cord blood	blood
3	chr8:10283200-10294000	Weak transcription	Gastric	stomach
4	chr8:10283200-10295200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:10285400-10293800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:10285800-10305200	Weak transcription	Lung	lung
7	chr8:10288400-10293800	Weak transcription	Fetal Brain Female	brain
8	chr8:10290000-10294200	Strong transcription	Liver	Liver
9	chr8:10291400-10301200	Weak transcription	Pancreas	Pancrea
10	chr8:10291800-10294000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr8:10292200-10294400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:10292200-10321400	Weak transcription	Fetal Brain Male	brain
13	chr8:10292400-10294200	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr8:10292400-10294400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:10293600-10294200	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr8:10293600-10294200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
17	chr8:10293600-10294200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr8:10293600-10294400	Strong transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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