Variant report

Variant	rs17054772
Chromosome Location	chr9:73103998-73103999
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73019847..73022238-chr9:73101610..73104964,3	K562	blood:
2	chr9:73100448..73102339-chr9:73102498..73105034,3	K562	blood:
3	chr9:73102768..73104960-chr9:73107078..73109058,2	K562	blood:
4	chr9:73032264..73037880-chr9:73093717..73104954,17	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11999226	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12004613	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13288260	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13302860	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34112146	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35069296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803241	0.87[EUR][1000 genomes]
rs60480667	0.83[EUR][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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17054772	FAM108B1	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73088600-73107200	Weak transcription	Gastric	stomach
2	chr9:73099400-73107800	Weak transcription	Small Intestine	intestine
3	chr9:73099800-73104400	Enhancers	Left Ventricle	heart
4	chr9:73100400-73107400	Weak transcription	Stomach Mucosa	stomach
5	chr9:73100600-73105800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:73100600-73106400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:73100600-73107200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:73100800-73104200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr9:73100800-73105600	Weak transcription	Brain Substantia Nigra	brain
10	chr9:73100800-73105800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:73100800-73106400	Weak transcription	Brain Angular Gyrus	brain
12	chr9:73100800-73106400	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:73100800-73107000	Weak transcription	Lung	lung
14	chr9:73101400-73107200	Weak transcription	Pancreas	Pancrea
15	chr9:73102600-73104400	Enhancers	Psoas Muscle	Psoas
16	chr9:73102800-73104000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:73102800-73104400	Enhancers	Right Atrium	heart
18	chr9:73103000-73104200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:73103000-73104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr9:73103000-73104400	Enhancers	Ovary	ovary
21	chr9:73103000-73104400	Enhancers	Right Ventricle	heart
22	chr9:73103000-73104400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:73103200-73104000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:73103200-73104200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:73103200-73104200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:73103200-73104200	Enhancers	Colon Smooth Muscle	Colon
27	chr9:73103200-73104200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr9:73103200-73104200	Enhancers	Rectal Smooth Muscle	rectum
29	chr9:73103200-73104400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:73103200-73105200	Enhancers	K562	blood
31	chr9:73103400-73104000	Enhancers	NHLF	lung
32	chr9:73103400-73104000	Enhancers	Osteobl	bone
33	chr9:73103400-73104200	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:73103400-73104400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:73103600-73104000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:73103600-73104000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:73103600-73104000	Enhancers	HMEC	breast
38	chr9:73103600-73104000	Enhancers	NHEK	skin
39	chr9:73103600-73104200	Enhancers	Adipose Nuclei	Adipose
40	chr9:73103600-73104400	Enhancers	Aorta	Aorta
41	chr9:73103800-73104000	Enhancers	Duodenum Mucosa	Duodenum
42	chr9:73103800-73107200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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