Variant report

Variant	rs16870210
Chromosome Location	chr8:104185250-104185251
allele	C/T
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:14)

rs_ID	r²[population]
rs1000460	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1000461	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10955312	0.85[ASN][1000 genomes]
rs12543973	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1494272	0.81[ASN][1000 genomes]
rs16870221	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs16870228	0.88[ASN][1000 genomes]
rs1826642	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs59216783	0.88[ASN][1000 genomes]
rs61607037	1.00[ASN][1000 genomes]
rs72673306	0.92[ASN][1000 genomes]
rs954782	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954783	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9693655	0.91[ASN][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:104177600-104186600	Weak transcription	Aorta	Aorta
2	chr8:104179200-104185400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:104181600-104185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:104183200-104186800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:104183200-104187200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:104184000-104186000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:104184000-104187200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:104184200-104185400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:104184200-104185400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:104184200-104186400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:104184200-104186600	Weak transcription	Gastric	stomach
12	chr8:104184200-104189400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:104184400-104185400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:104184400-104185400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:104184400-104186000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:104184400-104186200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:104184600-104185600	Weak transcription	Brain Angular Gyrus	brain
18	chr8:104184800-104187600	Enhancers	Brain Substantia Nigra	brain
19	chr8:104185200-104185600	Enhancers	GM12878-XiMat	blood
20	chr8:104185200-104186600	Enhancers	Brain Hippocampus Middle	brain
21	chr8:104185200-104188200	Enhancers	Brain Inferior Temporal Lobe	brain

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