Variant report

Variant	rs17646041
Chromosome Location	chr8:89013301-89013302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16877270	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17646751	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718032	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17718458	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719493	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719609	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719657	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871050	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097944	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2342	0.89[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28991897	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59222707	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675113	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73692187	1.00[ASN][1000 genomes]
rs73694221	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650033	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650034	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv428520	chr8:88933423-89089323	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2758163	chr8:88963829-89133704	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv2759625	chr8:88963829-89133704	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv2762758	chr8:89013301-89033922	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17646041	FAM82B	cis	parietal	SCAN
rs17646041	CA2	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89012200-89014800	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:89012800-89013400	Active TSS	Aorta	Aorta
3	chr8:89012800-89013400	Active TSS	Brain Hippocampus Middle	brain
4	chr8:89012800-89013400	Active TSS	Brain Substantia Nigra	brain
5	chr8:89012800-89013400	Active TSS	Right Atrium	heart
6	chr8:89012800-89013600	Active TSS	Brain Anterior Caudate	brain
7	chr8:89012800-89013600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:89012800-89013600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr8:89012800-89013600	Enhancers	NH-A	brain
10	chr8:89012800-89013800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:89012800-89013800	Flanking Active TSS	HUVEC	blood vessel
12	chr8:89012800-89014800	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:89013000-89013400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:89013000-89013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:89013000-89013400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr8:89013000-89013400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr8:89013000-89013400	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:89013000-89013400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:89013000-89013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:89013000-89013600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:89013000-89013600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:89013000-89013800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:89013000-89014000	Enhancers	Fetal Kidney	kidney
24	chr8:89013200-89013400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:89013200-89013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:89013200-89013400	Flanking Active TSS	Osteobl	bone
27	chr8:89013200-89013600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:89013200-89013600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:89013200-89013600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:89013200-89013600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:89013200-89013600	Enhancers	Adipose Nuclei	Adipose
32	chr8:89013200-89014000	Flanking Active TSS	Primary B cells from cord blood	blood

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