Variant report

Variant	rs4942769
Chromosome Location	chr13:49234466-49234467
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1323556	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1359108	0.83[ASN][1000 genomes]
rs1359109	0.83[ASN][1000 genomes]
rs1575464	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1575465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2407246	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2897623	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561474	0.81[ASN][1000 genomes]
rs7318887	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7323160	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7332030	0.90[ASN][1000 genomes]
rs7989287	0.83[ASN][1000 genomes]
rs8000783	0.81[ASN][1000 genomes]
rs9535059	0.89[ASN][1000 genomes]
rs9568059	0.87[ASN][1000 genomes]
rs9568069	0.90[ASN][1000 genomes]
rs9595945	0.90[ASN][1000 genomes]
rs9595950	0.81[ASN][1000 genomes]
rs9595960	0.80[EUR][1000 genomes]
rs9595961	0.80[EUR][1000 genomes]
rs964413	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3413502	chr13:49234413-49234759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49229000-49234600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:49229000-49236800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:49229600-49234600	Weak transcription	Primary T cells from cord blood	blood
4	chr13:49229600-49235000	Weak transcription	Gastric	stomach
5	chr13:49229800-49234600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr13:49229800-49239400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:49231400-49235000	Enhancers	Dnd41	blood
8	chr13:49232200-49235600	Enhancers	Placenta	Placenta
9	chr13:49232600-49234800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr13:49233800-49234600	Enhancers	Primary B cells from cord blood	blood
11	chr13:49233800-49235000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr13:49234000-49234800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:49234000-49235800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:49234200-49234600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:49234200-49234600	Enhancers	Colon Smooth Muscle	Colon
16	chr13:49234200-49234600	Enhancers	Stomach Smooth Muscle	stomach
17	chr13:49234200-49234800	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:49234200-49235000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr13:49234200-49235000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr13:49234200-49235000	Enhancers	Rectal Smooth Muscle	rectum
21	chr13:49234200-49235200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:49234200-49235200	Enhancers	Fetal Lung	lung
23	chr13:49234200-49235400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr13:49234200-49235800	Enhancers	Adipose Nuclei	Adipose
25	chr13:49234400-49234600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr13:49234400-49234600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:49234400-49234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:49234400-49234600	Enhancers	Right Atrium	heart
29	chr13:49234400-49234600	Bivalent Enhancer	NHDF-Ad	bronchial
30	chr13:49234400-49234800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:49234400-49234800	Enhancers	Fetal Thymus	thymus
32	chr13:49234400-49234800	Enhancers	Pancreas	Pancrea
33	chr13:49234400-49235000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr13:49234400-49235200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr13:49234400-49235200	Enhancers	Ovary	ovary
36	chr13:49234400-49235200	Flanking Active TSS	GM12878-XiMat	blood
37	chr13:49234400-49235400	Enhancers	Primary B cells from peripheral blood	blood
38	chr13:49234400-49235600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:49234400-49235600	Enhancers	Fetal Stomach	stomach

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