Variant report

Variant	rs7545038
Chromosome Location	chr1:114479430-114479431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114300984..114302990-chr1:114478955..114481737,2	MCF-7	breast:
2	chr1:114445714..114449676-chr1:114478836..114482443,5	K562	blood:
3	chr1:114479386..114481904-chr1:114482681..114484315,2	K562	blood:
4	chr1:114478526..114480276-chr1:114491487..114494305,3	K562	blood:
5	chr1:114479071..114481110-chr1:114495976..114498607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1000528	1.00[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217441	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147079	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2476598	1.00[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811018	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4381184	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6658209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702833	0.83[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7522987	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs7551215	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7554371	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7545038	OLFML3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114473200-114481200	Weak transcription	Spleen	Spleen
2	chr1:114473400-114480400	Weak transcription	Gastric	stomach
3	chr1:114473400-114483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:114473400-114483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:114473600-114480400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:114473600-114483000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:114473600-114483000	Weak transcription	Placenta	Placenta
8	chr1:114473600-114483200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:114473800-114483000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:114473800-114483000	Weak transcription	Colonic Mucosa	Colon
12	chr1:114473800-114483200	Weak transcription	Right Ventricle	heart
13	chr1:114474200-114479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:114474200-114482600	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:114474200-114483000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:114474200-114483000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:114474200-114483200	Weak transcription	Aorta	Aorta
18	chr1:114474200-114483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:114474200-114489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:114474400-114483200	Weak transcription	Fetal Brain Female	brain
21	chr1:114474600-114479800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:114474600-114479800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:114474600-114480000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:114474600-114480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:114474600-114483200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:114474600-114483200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:114474800-114479800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:114474800-114479800	Weak transcription	Fetal Heart	heart
29	chr1:114474800-114482600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:114474800-114482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:114474800-114483000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:114474800-114483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:114474800-114483000	Weak transcription	Fetal Intestine Large	intestine
34	chr1:114474800-114483400	Weak transcription	HMEC	breast
35	chr1:114474800-114483400	Weak transcription	HSMMtube	muscle
36	chr1:114474800-114483800	Weak transcription	Fetal Kidney	kidney
37	chr1:114474800-114483800	Weak transcription	NHDF-Ad	bronchial
38	chr1:114474800-114488600	Weak transcription	Stomach Mucosa	stomach
39	chr1:114475000-114479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:114475000-114481800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:114475000-114483000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:114475000-114483000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:114475000-114483000	Weak transcription	Brain Germinal Matrix	brain
44	chr1:114475000-114483200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:114475000-114483200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:114475000-114483400	Weak transcription	NH-A	brain
47	chr1:114475200-114479800	Weak transcription	NHLF	lung
48	chr1:114475200-114482200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:114475200-114482800	Weak transcription	Osteobl	bone
50	chr1:114475200-114483000	Weak transcription	Fetal Intestine Small	intestine

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