Variant report

Variant	rs7934481
Chromosome Location	chr11:47883337-47883338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47882484..47885060-chr11:47964831..47967242,2	K562	blood:
2	chr11:47858317..47861141-chr11:47883215..47886072,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1017730	0.90[AFR][1000 genomes]
rs10458914	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11039398	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11039409	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12223593	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577383	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12803857	0.81[EUR][1000 genomes]
rs12807014	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7114011	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131262	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7927445	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[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	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7934481	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870600-47885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:47872200-47884000	Weak transcription	Thymus	Thymus
4	chr11:47873000-47883400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:47873000-47884600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:47875400-47884600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:47875800-47883400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47878000-47884400	Enhancers	Primary B cells from cord blood	blood
9	chr11:47879600-47883600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:47879800-47884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:47879800-47884400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:47879800-47884600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:47880000-47884800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:47880000-47884800	Weak transcription	Spleen	Spleen
15	chr11:47880000-47886600	Weak transcription	HSMMtube	muscle
16	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:47880200-47883400	Enhancers	Hela-S3	cervix
18	chr11:47880200-47883400	Weak transcription	NHLF	lung
19	chr11:47880200-47884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:47880200-47884400	Weak transcription	HSMM	muscle
21	chr11:47880200-47884800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:47880200-47884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:47880200-47884800	Weak transcription	HUVEC	blood vessel
24	chr11:47880200-47885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:47880200-47885400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:47880400-47884000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:47880600-47885000	Enhancers	Placenta	Placenta
29	chr11:47882800-47884800	Enhancers	Primary T cells from cord blood	blood
30	chr11:47883000-47884400	Enhancers	GM12878-XiMat	blood
31	chr11:47883000-47884600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:47883000-47884600	Enhancers	A549	lung
33	chr11:47883000-47885000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:47883000-47886000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:47883000-47886000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:47883000-47886200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:47883000-47886400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:47883000-47886600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:47883000-47887200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:47883200-47883400	Enhancers	Adipose Nuclei	Adipose
41	chr11:47883200-47883400	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:47883200-47883600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:47883200-47883600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:47883200-47883600	Enhancers	K562	blood
45	chr11:47883200-47883600	Enhancers	NH-A	brain
46	chr11:47883200-47884600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:47883200-47884800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr11:47883200-47884800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47883200-47884800	Enhancers	Osteobl	bone
50	chr11:47883200-47885000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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