Variant report

Variant	rs1475545
Chromosome Location	chr9:100316230-100316231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100315805-100316418	K562	blood:	n/a	n/a
2	POLR2A	chr9:100315815-100316436	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100314945..100316769-chr9:100317565..100320013,2	MCF-7	breast:
2	chr9:100313497..100316330-chr9:100393433..100395360,2	MCF-7	breast:
3	chr9:100315064..100317144-chr9:100338038..100339669,2	K562	blood:
4	chr9:100307811..100310767-chr9:100315037..100317582,2	MCF-7	breast:

Variant related genes	Relation type
TMOD1	TF binding region
ENSG00000136842	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10759781	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs10817760	0.82[ASN][1000 genomes]
rs10817771	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10982730	0.82[ASN][1000 genomes]
rs10982736	0.83[ASN][1000 genomes]
rs36035236	0.92[EUR][1000 genomes]
rs7047577	0.90[EUR][1000 genomes]
rs7865885	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7869116	0.91[EUR][1000 genomes]
rs7872629	0.90[EUR][1000 genomes]
rs7875496	0.82[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs867585	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking 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	27 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1475545	FBP1	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100274000-100318400	Weak transcription	Gastric	stomach
2	chr9:100284600-100318400	Weak transcription	Liver	Liver
3	chr9:100291600-100317200	Weak transcription	Brain Angular Gyrus	brain
4	chr9:100294600-100318400	Weak transcription	Spleen	Spleen
5	chr9:100297800-100317400	Weak transcription	Fetal Brain Female	brain
6	chr9:100306800-100321000	Weak transcription	HSMMtube	muscle
7	chr9:100308200-100319400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:100308200-100319600	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:100308600-100318600	Weak transcription	Psoas Muscle	Psoas
10	chr9:100309800-100317200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:100310000-100318400	Weak transcription	Brain Substantia Nigra	brain
12	chr9:100310000-100319400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:100310200-100317000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:100310400-100317200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:100311200-100317000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:100311200-100317600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:100311400-100317000	Weak transcription	Pancreas	Pancrea
18	chr9:100311600-100317600	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:100311600-100319400	Weak transcription	GM12878-XiMat	blood
20	chr9:100311800-100317400	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:100311800-100325200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:100314400-100317800	Strong transcription	K562	blood
23	chr9:100315200-100317000	Weak transcription	Brain Anterior Caudate	brain
24	chr9:100315400-100316400	Enhancers	Adipose Nuclei	Adipose
25	chr9:100315400-100316600	Strong transcription	Lung	lung
26	chr9:100315400-100316800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:100315600-100318200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr9:100315600-100318800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:100315600-100326200	Weak transcription	Esophagus	oesophagus
30	chr9:100315800-100316400	Genic enhancers	Left Ventricle	heart
31	chr9:100315800-100316400	Genic enhancers	Ovary	ovary
32	chr9:100315800-100317400	Genic enhancers	Right Ventricle	heart
33	chr9:100315800-100318200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:100315800-100318800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:100315800-100319000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:100316000-100316400	Weak transcription	Fetal Heart	heart
37	chr9:100316000-100316400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr9:100316000-100317000	Weak transcription	Aorta	Aorta
39	chr9:100316000-100317200	Weak transcription	Fetal Brain Male	brain
40	chr9:100316000-100322400	Enhancers	Right Atrium	heart

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