Variant report

Variant	rs16892786
Chromosome Location	chr8:120582871-120582872
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	chr8:120572726..120574913-chr8:120581800..120583355,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11782782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73328099	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16892786	TAF2	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
8	chr8:120571400-120592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:120572600-120591600	Weak transcription	Psoas Muscle	Psoas
11	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:120576000-120593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:120577000-120585400	Genic enhancers	NHDF-Ad	bronchial
14	chr8:120578000-120589000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:120578600-120589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:120579600-120586800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:120580000-120584600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
21	chr8:120580200-120584800	Weak transcription	Placenta	Placenta
22	chr8:120581200-120586400	Weak transcription	Liver	Liver
23	chr8:120581600-120584200	Weak transcription	Fetal Lung	lung
24	chr8:120581600-120584600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:120581600-120586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:120581600-120586800	Weak transcription	Brain Substantia Nigra	brain
27	chr8:120581600-120587200	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:120581800-120583200	Enhancers	Osteobl	bone
29	chr8:120581800-120586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:120581800-120586600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:120581800-120589600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:120582000-120583200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:120582000-120584000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:120582000-120587000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:120582200-120585600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:120582400-120586200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:120582600-120586000	Weak transcription	NHLF	lung
38	chr8:120582800-120585400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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