Variant report

Variant	rs2748543
Chromosome Location	chr14:24778674-24778675
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24778523-24779253	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:24778201-24781400	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:24778620-24778721	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:24778183-24780646	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:24778585-24781440	GM12892	blood:	n/a	n/a
6	CTCF	chr14:24778620-24778770	BJ	skin:	n/a	n/a
7	POLR2A	chr14:24778328-24781399	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24769018..24771644-chr14:24778129..24781269,3	K562	blood:
2	chr14:24710202..24713274-chr14:24777163..24780691,4	K562	blood:
3	chr14:24681591..24684402-chr14:24776273..24778851,2	K562	blood:
4	chr14:24778484..24781723-chr14:24903121..24905574,3	MCF-7	breast:

No data

Variant related genes	Relation type
CIDEB	TF binding region
LTB4R2	TF binding region
LTB4R	TF binding region
ENSG00000157379	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000254505	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11158632	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158634	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158635	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1131941	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886362	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144494	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224122	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224123	0.84[EUR][1000 genomes]
rs2281472	0.87[EUR][1000 genomes]
rs2516564	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181384	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280164	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4366641	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374085	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981503	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981504	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2748543	LTB4R	cis	lung	GTEx
rs2748543	LTB4R	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770200-24779400	Weak transcription	Right Atrium	heart
2	chr14:24770400-24778800	Weak transcription	Fetal Heart	heart
3	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:24770800-24779000	Strong transcription	NHLF	lung
7	chr14:24770800-24779200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:24771600-24780400	Strong transcription	Dnd41	blood
9	chr14:24773600-24779000	Weak transcription	NHDF-Ad	bronchial
10	chr14:24773800-24779000	Weak transcription	Fetal Brain Male	brain
11	chr14:24774000-24779200	Weak transcription	Psoas Muscle	Psoas
12	chr14:24775200-24779400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:24775600-24779400	Weak transcription	Osteobl	bone
14	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:24775800-24779200	Weak transcription	Small Intestine	intestine
16	chr14:24775800-24779400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:24775800-24782200	Weak transcription	HSMMtube	muscle
18	chr14:24775800-24784000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:24776000-24779000	Weak transcription	HUVEC	blood vessel
20	chr14:24776000-24779200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:24776000-24779400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:24776000-24779800	Weak transcription	HSMM	muscle
23	chr14:24776000-24783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:24776200-24779400	Weak transcription	Aorta	Aorta
25	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:24776400-24779400	Genic enhancers	Fetal Thymus	thymus
27	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:24776600-24779000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:24776600-24779400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:24776600-24779400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:24776600-24779600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:24776800-24778800	Weak transcription	Fetal Lung	lung
33	chr14:24776800-24779000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:24776800-24779000	Weak transcription	Fetal Brain Female	brain
35	chr14:24776800-24779400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:24776800-24779400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:24777000-24778800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:24777000-24778800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:24777000-24779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:24777000-24779000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:24777000-24779200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:24777000-24779200	Weak transcription	Brain Substantia Nigra	brain
43	chr14:24777000-24779400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr14:24777000-24779400	Weak transcription	Ovary	ovary
45	chr14:24777000-24779800	Genic enhancers	Placenta	Placenta
46	chr14:24777200-24778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:24777200-24778800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:24777200-24778800	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:24777200-24779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:24777200-24779200	Enhancers	Primary B cells from cord blood	blood

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