Variant report

Variant	rs7125891
Chromosome Location	chr11:8010307-8010308
allele	G/T
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	chr11:8009756-8011030	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8008975..8010895-chr11:8012887..8014632,2	K562	blood:
2	chr11:8008425..8011151-chr11:8011381..8013712,2	MCF-7	breast:
3	chr11:8010094..8012812-chr11:8018945..8021988,4	K562	blood:

Variant related genes	Relation type
EIF3F	TF binding region
ENSG00000175390	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10839958	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10839960	0.93[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs10839962	0.93[JPT][hapmap];0.96[YRI][hapmap];0.86[ASN][1000 genomes]
rs11041702	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1105984	0.93[JPT][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs1132660	0.84[ASN][1000 genomes]
rs12275353	0.93[JPT][hapmap]
rs12278319	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12294650	0.86[ASN][1000 genomes]
rs3892448	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3903047	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4076921	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4559682	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758038	0.88[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs6578918	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6578919	0.94[ASN][1000 genomes]
rs7126561	1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7935597	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7941107	0.93[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7941782	0.93[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7950331	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs922062	0.93[JPT][hapmap];0.84[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7125891	EIF3F	cis	lung	GTEx
rs7125891	EIF3F	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8008000-8010400	Active TSS	Psoas Muscle	Psoas
2	chr11:8008600-8010400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:8008600-8010400	Active TSS	NHLF	lung
4	chr11:8009400-8010400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:8009400-8010400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:8009400-8010400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:8009400-8010400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr11:8009400-8010400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:8009400-8010400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:8009400-8010400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr11:8009400-8010400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr11:8009400-8010400	Flanking Active TSS	Dnd41	blood
13	chr11:8009400-8010600	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr11:8009400-8010800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:8009400-8010800	Flanking Active TSS	Fetal Brain Male	brain
16	chr11:8009400-8010800	Transcr. at gene 5' and 3'	K562	blood
17	chr11:8009400-8013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8009600-8010400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:8009600-8010400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:8009600-8010400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr11:8009600-8010400	Flanking Active TSS	HSMMtube	muscle
22	chr11:8009600-8010600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr11:8009600-8010600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:8009600-8010600	Enhancers	Small Intestine	intestine
25	chr11:8009600-8010600	Flanking Active TSS	GM12878-XiMat	blood
26	chr11:8009600-8010800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:8009600-8010800	Enhancers	Spleen	Spleen
28	chr11:8009600-8011000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:8009600-8011000	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr11:8009800-8010400	Enhancers	Primary B cells from peripheral blood	blood
31	chr11:8009800-8010400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:8009800-8010400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:8009800-8010400	Enhancers	Esophagus	oesophagus
34	chr11:8009800-8010400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:8009800-8010600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:8009800-8010600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr11:8009800-8010800	Enhancers	Pancreas	Pancrea
38	chr11:8009800-8010800	Enhancers	Stomach Mucosa	stomach
39	chr11:8009800-8010800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr11:8009800-8011000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:8009800-8014600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:8009800-8015800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:8010000-8010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:8010000-8010400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr11:8010000-8010400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:8010000-8010400	Flanking Active TSS	Fetal Brain Female	brain
47	chr11:8010000-8010400	Enhancers	Fetal Lung	lung
48	chr11:8010000-8010400	Flanking Active TSS	HepG2	liver
49	chr11:8010000-8010600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
50	chr11:8010000-8010600	Enhancers	Primary hematopoietic stem cells	blood

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