Variant report

Variant	rs6518785
Chromosome Location	chr22:32879317-32879318
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr22:32878495-32879448	K562	blood:	n/a	n/a
2	SPI1	chr22:32878584-32879322	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr22:32878721-32879343	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32879087..32881935-chr22:32888210..32890953,3	K562	blood:
2	chr22:32869625..32873110-chr22:32875948..32879908,5	MCF-7	breast:
3	chr22:32878059..32881548-chr22:32881725..32884311,3	MCF-7	breast:
4	chr22:32879087..32881593-chr22:32888783..32892054,3	K562	blood:
5	22:32529813-32538538..22:32878464-32886640	K562	blood:
6	chr22:32877452..32880294-chr7:117444818..117446964,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO7	TF binding region
ENSG00000100225	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000239674	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12167840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12167896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754125	0.80[ASN][1000 genomes]
rs67999115	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73170402	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs738980	1.00[CHB][hapmap]
rs8135209	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142589	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9621461	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6518785	FBXO7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32872000-32881000	Weak transcription	Esophagus	oesophagus
2	chr22:32872000-32881000	Weak transcription	Lung	lung
3	chr22:32872000-32881400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:32872000-32884400	Weak transcription	Pancreas	Pancrea
5	chr22:32872000-32884800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:32872000-32889000	Weak transcription	Gastric	stomach
7	chr22:32872000-32891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:32872200-32880000	Weak transcription	Placenta	Placenta
9	chr22:32872200-32882600	Weak transcription	Colonic Mucosa	Colon
10	chr22:32872200-32885200	Weak transcription	Stomach Mucosa	stomach
11	chr22:32872200-32886200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:32872200-32889000	Weak transcription	Fetal Brain Male	brain
13	chr22:32872200-32898200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:32872200-32898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:32872200-32899600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:32872400-32881000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:32872400-32881000	Weak transcription	HSMMtube	muscle
18	chr22:32872400-32881200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:32872600-32880800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:32872600-32881000	Weak transcription	Fetal Brain Female	brain
21	chr22:32873000-32880000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:32873000-32880000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:32873000-32880600	Weak transcription	NH-A	brain
24	chr22:32873000-32882200	Weak transcription	Fetal Stomach	stomach
25	chr22:32873000-32889600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:32873000-32898000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:32873200-32879600	Weak transcription	HUVEC	blood vessel
28	chr22:32873200-32879600	Weak transcription	NHDF-Ad	bronchial
29	chr22:32873200-32879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:32873200-32880000	Weak transcription	Osteobl	bone
31	chr22:32873200-32880400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:32873200-32881000	Weak transcription	A549	lung
33	chr22:32873200-32881600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:32873200-32883400	Weak transcription	NHLF	lung
35	chr22:32873600-32879800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr22:32873600-32881200	Weak transcription	Brain Germinal Matrix	brain
37	chr22:32874200-32880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:32874200-32880200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr22:32874200-32881000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr22:32874200-32882200	Weak transcription	Fetal Intestine Small	intestine
41	chr22:32874800-32881000	Weak transcription	Small Intestine	intestine
42	chr22:32874800-32896000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr22:32874800-32896400	Strong transcription	Dnd41	blood
44	chr22:32875200-32881200	Weak transcription	Colon Smooth Muscle	Colon
45	chr22:32875200-32883000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:32875200-32890400	Weak transcription	Aorta	Aorta
47	chr22:32875600-32884400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:32875800-32880000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:32876000-32879400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr22:32876000-32879800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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