Variant report

Variant	rs1667103
Chromosome Location	chr2:114380967-114380968
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	POU2F2	chr2:114380913-114381662	GM12878	blood:	n/a	chr2:114381528-114381536 chr2:114381523-114381541 chr2:114381524-114381539 chr2:114381527-114381537 chr2:114381527-114381538 chr2:114381527-114381538
2	MAFK	chr2:114380859-114381029	HepG2	liver:	n/a	chr2:114380898-114380913
3	MAFK	chr2:114380811-114381062	HepG2	liver:	n/a	chr2:114380898-114380913
4	GATA2	chr2:114380884-114381705	K562	blood:	n/a	chr2:114381343-114381352
5	MAFK	chr2:114380813-114381069	IMR90	lung:	n/a	chr2:114380898-114380913
6	POLR2A	chr2:114380914-114381603	U87	brain:	n/a	n/a
7	MAFF	chr2:114380778-114380989	K562	blood:	n/a	chr2:114380896-114380914
8	MAFK	chr2:114380867-114380973	K562	blood:	n/a	chr2:114380898-114380913

Variant related genes	Relation type
RABL2A	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1040646	0.80[ASN][1000 genomes]
rs1665302	0.86[ASN][1000 genomes]
rs1739509	0.88[ASN][1000 genomes]
rs55959208	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60533451	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][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	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1807730	chr2:114312991-114398343	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv963711	chr2:114358889-114381866	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv961643	chr2:114375499-114381866	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs1667103	RPL23AP7	cis	Thyroid	GTEx
rs1667103	RPL23AP7	cis	Whole Blood	GTEx
rs1667103	RPL23AP7	cis	Adipose Subcutaneous	GTEx
rs1667103	RPL23AP7	cis	Skin Sun Exposed Lower leg	GTEx
rs1667103	RPL23AP7	cis	Esophagus Mucosa	GTEx
rs1667103	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs1667103	RPL23AP7	cis	Artery Tibial	GTEx
rs1667103	RPL23AP7	cis	lung	GTEx
rs1667103	RPL23AP7	cis	Muscle Skeletal	GTEx
rs1667103	RPL23AP7	cis	Nerve Tibial	GTEx
rs1667103	RPL23AP7	cis	Artery Aorta	GTEx
rs1667103	RPL23AP7	cis	Esophagus Muscularis	GTEx
rs1667103	DDX11L2	cis	Whole Blood	GTEx
rs1667103	RPL23AP7	cis	Stomach	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114361800-114383000	Weak transcription	Fetal Lung	lung
2	chr2:114361800-114383000	Weak transcription	Right Ventricle	heart
3	chr2:114361800-114383600	Weak transcription	Liver	Liver
4	chr2:114361800-114383600	Weak transcription	Fetal Stomach	stomach
5	chr2:114362200-114382800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:114362200-114383000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:114362200-114383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:114362600-114382800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:114362600-114383200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:114362800-114382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:114367400-114383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:114369800-114383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:114375400-114383600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:114376800-114383600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:114377000-114384200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:114377000-114384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:114377800-114383000	Weak transcription	Fetal Thymus	thymus
18	chr2:114378000-114382600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:114378200-114383600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:114378200-114385600	Weak transcription	Spleen	Spleen
21	chr2:114378400-114383000	Weak transcription	Pancreas	Pancrea
22	chr2:114378400-114383000	Weak transcription	HepG2	liver
23	chr2:114378600-114383000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:114378600-114383600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:114378600-114383600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:114380800-114381000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:114380800-114381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:114380800-114381200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:114380800-114381200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:114380800-114383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:114380800-114383600	Weak transcription	Brain Anterior Caudate	brain

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