Variant report

Variant	rs242403
Chromosome Location	chr14:56635796-56635797
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483657	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs171410	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17832621	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242397	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242399	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242401	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242405	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242408	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs242412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs242415	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242416	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783673	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783677	0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs3783682	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs3783683	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3825619	0.83[ASN][1000 genomes]
rs55724547	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55764336	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56280775	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56387985	0.80[ASN][1000 genomes]
rs57405940	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58069847	0.83[ASN][1000 genomes]
rs72714350	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72717977	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72717992	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
3	chr14:56621400-56637600	Weak transcription	Small Intestine	intestine
4	chr14:56627200-56645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:56632200-56638000	Enhancers	Dnd41	blood
6	chr14:56633200-56638800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:56633800-56640200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:56633800-56645000	Weak transcription	Primary B cells from cord blood	blood
9	chr14:56634200-56638800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:56634400-56636400	Genic enhancers	Thymus	Thymus
11	chr14:56634400-56639200	Enhancers	Fetal Thymus	thymus
12	chr14:56634400-56644200	Enhancers	Pancreas	Pancrea
13	chr14:56634600-56636000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:56634600-56638600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:56634600-56638800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:56634800-56635800	Enhancers	Placenta	Placenta
17	chr14:56634800-56636000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:56634800-56636200	Strong transcription	Fetal Intestine Small	intestine
19	chr14:56634800-56636200	Enhancers	Lung	lung
20	chr14:56634800-56638400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:56634800-56638800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:56634800-56638800	Weak transcription	Brain Substantia Nigra	brain
23	chr14:56634800-56639000	Weak transcription	Adipose Nuclei	Adipose
24	chr14:56635000-56635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:56635000-56636000	Weak transcription	Primary T cells from cord blood	blood
26	chr14:56635000-56636400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:56635000-56638000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:56635000-56638400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:56635000-56638400	Weak transcription	Gastric	stomach
30	chr14:56635000-56638800	Weak transcription	Brain Anterior Caudate	brain
31	chr14:56635000-56638800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:56635000-56654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:56635200-56638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:56635400-56636000	Enhancers	Spleen	Spleen
35	chr14:56635400-56638200	Weak transcription	Esophagus	oesophagus
36	chr14:56635600-56635800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:56635600-56635800	Enhancers	Fetal Brain Female	brain
38	chr14:56635600-56636200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:56635600-56640400	Enhancers	Stomach Mucosa	stomach
40	chr14:56635600-56647200	Weak transcription	Ovary	ovary

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