Variant report

Variant	rs2930191
Chromosome Location	chr11:47946836-47946837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1228001	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2930191	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs2930191	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs2930191	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:47937400-47949800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:47940200-47950000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:47941400-47949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:47943000-47949600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:47943200-47949800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:47943200-47949800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:47943200-47950000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:47944200-47947200	Enhancers	Placenta	Placenta
10	chr11:47944400-47949800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:47945800-47949800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:47946000-47949800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:47946200-47947000	Weak transcription	Lung	lung
14	chr11:47946200-47949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:47946200-47949800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:47946200-47949800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:47946200-47949800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:47946200-47949800	Weak transcription	Thymus	Thymus
19	chr11:47946200-47949800	Weak transcription	GM12878-XiMat	blood
20	chr11:47946200-47950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:47946200-47950000	Weak transcription	HSMMtube	muscle
22	chr11:47946200-47953000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:47946200-47953200	Weak transcription	NHDF-Ad	bronchial
24	chr11:47946400-47947000	Enhancers	Hela-S3	cervix
25	chr11:47946400-47949200	Weak transcription	Fetal Thymus	thymus
26	chr11:47946400-47949800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:47946400-47950000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:47946400-47953200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:47946600-47949200	Weak transcription	Primary B cells from cord blood	blood
30	chr11:47946600-47949800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:47946600-47950000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:47946600-47950000	Weak transcription	Pancreas	Pancrea
33	chr11:47946800-47948200	Weak transcription	A549	lung

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