Variant report

Variant	rs12379516
Chromosome Location	chr9:101672812-101672813
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	chr9:101671905..101674026-chr9:101868875..101871020,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2151617	1.00[ASN][1000 genomes]
rs2184214	1.00[ASN][1000 genomes]
rs35250850	1.00[ASN][1000 genomes]
rs41283636	1.00[ASN][1000 genomes]
rs41283638	1.00[ASN][1000 genomes]
rs55697146	1.00[ASN][1000 genomes]
rs55771115	1.00[ASN][1000 genomes]
rs55881088	1.00[ASN][1000 genomes]
rs55980075	1.00[ASN][1000 genomes]
rs55996120	1.00[ASN][1000 genomes]
rs56358572	1.00[ASN][1000 genomes]
rs62561172	1.00[ASN][1000 genomes]
rs62561176	1.00[ASN][1000 genomes]
rs62561177	1.00[ASN][1000 genomes]
rs62561178	1.00[ASN][1000 genomes]
rs62561179	1.00[ASN][1000 genomes]
rs62561181	1.00[ASN][1000 genomes]
rs62561185	1.00[ASN][1000 genomes]
rs62561248	1.00[ASN][1000 genomes]
rs62561249	1.00[ASN][1000 genomes]
rs62561250	1.00[ASN][1000 genomes]
rs72739264	1.00[ASN][1000 genomes]
rs72739265	1.00[ASN][1000 genomes]
rs72739266	1.00[ASN][1000 genomes]
rs882727	1.00[CHB][hapmap];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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv614953	chr9:101671634-101715598	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12379516	FBP1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101665800-101675600	Enhancers	Fetal Muscle Leg	muscle
2	chr9:101668400-101673400	Enhancers	Adipose Nuclei	Adipose
3	chr9:101670800-101673400	Weak transcription	Spleen	Spleen
4	chr9:101670800-101678800	Weak transcription	Fetal Heart	heart
5	chr9:101671200-101679000	Weak transcription	Right Ventricle	heart
6	chr9:101671200-101679600	Weak transcription	Gastric	stomach
7	chr9:101671400-101673400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:101671400-101673400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:101671400-101673400	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:101671400-101673400	Weak transcription	Ovary	ovary
11	chr9:101671400-101674000	Weak transcription	Left Ventricle	heart
12	chr9:101671400-101674800	Weak transcription	Placenta	Placenta
13	chr9:101671400-101674800	Weak transcription	Lung	lung
14	chr9:101671400-101674800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:101671400-101678000	Weak transcription	Brain Substantia Nigra	brain
16	chr9:101671400-101679800	Weak transcription	Right Atrium	heart
17	chr9:101671800-101673000	Weak transcription	Fetal Kidney	kidney
18	chr9:101671800-101678800	Weak transcription	Fetal Lung	lung
19	chr9:101671800-101678800	Weak transcription	Fetal Stomach	stomach
20	chr9:101672200-101673400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:101672400-101673600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:101672400-101673800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr9:101672600-101674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:101672600-101678200	Weak transcription	Pancreas	Pancrea
25	chr9:101672800-101673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:101672800-101678600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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