Variant report

Variant	rs11039297
Chromosome Location	chr11:47581443-47581444
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	chr11:47581414-47581474	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47571243..47573652-chr11:47580748..47583116,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL652P	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10769282	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10838725	0.82[AMR][1000 genomes]
rs10838726	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838731	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838732	0.82[ASN][1000 genomes]
rs11039290	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12225051	0.83[EUR][1000 genomes]
rs12287076	0.88[EUR][1000 genomes]
rs2280231	0.85[EUR][1000 genomes]
rs6485758	0.80[AMR][1000 genomes]
rs7120548	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7126378	0.83[ASN][1000 genomes]
rs71475921	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3408148	chr11:47579351-47581549	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11039297	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47575200-47586000	Weak transcription	HSMMtube	muscle
2	chr11:47575200-47586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:47575200-47586200	Weak transcription	Placenta	Placenta
4	chr11:47575200-47586400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47575200-47586400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:47575200-47586400	Weak transcription	Psoas Muscle	Psoas
7	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:47575200-47586600	Weak transcription	Gastric	stomach
10	chr11:47575200-47586600	Weak transcription	Ovary	ovary
11	chr11:47575400-47581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:47575400-47581600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:47575400-47581800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:47575400-47581800	Weak transcription	Osteobl	bone
15	chr11:47575400-47586000	Weak transcription	Primary B cells from cord blood	blood
16	chr11:47575400-47586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:47575400-47586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:47575400-47586200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:47575400-47586200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:47575400-47586200	Weak transcription	A549	lung
21	chr11:47575400-47586200	Weak transcription	NHEK	skin
22	chr11:47575400-47586400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:47575400-47586400	Weak transcription	Fetal Stomach	stomach
24	chr11:47575400-47586400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:47575400-47586400	Weak transcription	NH-A	brain
26	chr11:47575600-47581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:47575600-47581600	Weak transcription	Hela-S3	cervix
28	chr11:47575600-47584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:47575600-47585800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:47575600-47585800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:47575600-47586200	Weak transcription	NHDF-Ad	bronchial
32	chr11:47575600-47586600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:47575800-47581600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:47575800-47582000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:47575800-47586200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:47576000-47586000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:47576200-47585800	Weak transcription	Dnd41	blood
38	chr11:47576200-47586200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:47578400-47586600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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