Variant report

Variant	rs2418914
Chromosome Location	chr2:114451415-114451416
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	chr2:114446767..114449661-chr2:114451262..114453281,2	K562	blood:
2	chr2:114450920..114453589-chr2:114487817..114489810,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL2A-5	chr2:114450947-114454451	l_1932_chr2:114450946-114476823_testes

Extended variants
information (count: 23 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11684486	0.84[AMR][1000 genomes]
rs11688799	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694651	0.87[AMR][1000 genomes]
rs1448866	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448867	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1597245	0.87[AMR][1000 genomes]
rs1597246	0.87[AMR][1000 genomes]
rs17682500	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1975595	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044686	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4544450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849260	0.87[AMR][1000 genomes]
rs4849261	0.84[AMR][1000 genomes]
rs4849263	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55740782	0.87[AMR][1000 genomes]
rs6542169	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955046	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7600042	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
5	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2418914	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs2418914	RPL23AP7	cis	Artery Aorta	GTEx
rs2418914	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs2418914	DDX11L2	cis	Esophagus Mucosa	GTEx
rs2418914	DDX11L2	cis	Nerve Tibial	GTEx
rs2418914	DDX11L2	cis	Muscle Skeletal	GTEx
rs2418914	DDX11L2	cis	lung	GTEx
rs2418914	RPL23AP7	cis	Whole Blood	GTEx
rs2418914	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2418914	RPL23AP7	cis	multi-tissue	Pritchard
rs2418914	RPL23AP7	cis	Artery Tibial	GTEx
rs2418914	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs2418914	DDX11L2	cis	Artery Tibial	GTEx
rs2418914	DDX11L2	cis	Artery Aorta	GTEx
rs2418914	DDX11L2	cis	Whole Blood	GTEx
rs2418914	RABL2A	cis	Artery Tibial	GTEx
rs2418914	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114444200-114459200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:114448800-114459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:114449600-114452200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:114449800-114452400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:114449800-114452800	Enhancers	Dnd41	blood
6	chr2:114450000-114451800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:114450000-114452200	Enhancers	Primary B cells from cord blood	blood
8	chr2:114450000-114452200	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:114450000-114452400	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:114450000-114452400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:114450000-114452600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:114450200-114451800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:114450200-114452400	Enhancers	Primary T cells from cord blood	blood
14	chr2:114450200-114452400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:114450200-114452400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:114450200-114452400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:114450200-114452400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:114450200-114452400	Enhancers	Fetal Thymus	thymus
19	chr2:114450200-114452600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:114450200-114452800	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:114450200-114452800	Enhancers	Fetal Heart	heart
22	chr2:114450400-114452200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:114450400-114452600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:114450400-114452600	Enhancers	Thymus	Thymus
25	chr2:114450600-114452000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:114450600-114452200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:114451200-114451600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:114451200-114451800	Enhancers	Left Ventricle	heart
29	chr2:114451400-114451600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:114451400-114451600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:114451400-114452000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:114451400-114452600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:114451400-114452800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:114451400-114457200	Weak transcription	Spleen	Spleen

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