Variant report

Variant	rs4849262
Chromosome Location	chr2:114452256-114452257
allele	A/G
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: 21 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs11674510	0.82[AFR][1000 genomes]
rs11684486	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11688799	0.83[AMR][1000 genomes]
rs11694651	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1597245	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1597246	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2044686	0.84[AMR][1000 genomes]
rs2290107	0.84[AFR][1000 genomes]
rs4849260	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4849261	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4849263	0.84[AMR][1000 genomes]
rs55740782	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73955055	0.80[AFR][1000 genomes]
rs73955056	0.81[AFR][1000 genomes]
rs7599832	0.84[AFR][1000 genomes]
rs9753198	0.84[AFR][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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4849262	DDX11L2	cis	Nerve Tibial	GTEx
rs4849262	DDX11L2	cis	Whole Blood	GTEx
rs4849262	DDX11L2	cis	lung	GTEx
rs4849262	DDX11L2	cis	Esophagus Mucosa	GTEx
rs4849262	RPL23AP7	cis	multi-tissue	Pritchard
rs4849262	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs4849262	DDX11L2	cis	Muscle Skeletal	GTEx
rs4849262	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs4849262	RPL23AP7	cis	Artery Tibial	GTEx
rs4849262	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs4849262	RPL23AP7	cis	Artery Aorta	GTEx
rs4849262	RPL23AP7	cis	Whole Blood	GTEx
rs4849262	RPL23AP7	cis	Muscle Skeletal	GTEx

Chromatin state (count:32 , 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	chr2:114449800-114452400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:114449800-114452800	Enhancers	Dnd41	blood
5	chr2:114450000-114452400	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:114450000-114452400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:114450000-114452600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:114450200-114452400	Enhancers	Primary T cells from cord blood	blood
9	chr2:114450200-114452400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:114450200-114452400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:114450200-114452400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:114450200-114452400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:114450200-114452400	Enhancers	Fetal Thymus	thymus
14	chr2:114450200-114452600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:114450200-114452800	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:114450200-114452800	Enhancers	Fetal Heart	heart
17	chr2:114450400-114452600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:114450400-114452600	Enhancers	Thymus	Thymus
19	chr2:114451400-114452600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:114451400-114452800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:114451400-114457200	Weak transcription	Spleen	Spleen
22	chr2:114451600-114461400	Weak transcription	Esophagus	oesophagus
23	chr2:114451600-114461800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:114451600-114462400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:114451800-114452800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:114451800-114457600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:114452000-114457600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:114452000-114457800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:114452200-114455400	Enhancers	GM12878-XiMat	blood
30	chr2:114452200-114456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:114452200-114457400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:114452200-114457600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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