Variant report

Variant	rs17109380
Chromosome Location	chr14:25441067-25441068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10132357	0.98[ASN][1000 genomes]
rs10138510	0.98[ASN][1000 genomes]
rs11628502	0.98[ASN][1000 genomes]
rs11847576	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850786	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109371	0.98[ASN][1000 genomes]
rs17109382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109457	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109462	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109515	0.80[EUR][1000 genomes]
rs1952491	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1952499	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2094659	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28625718	0.98[ASN][1000 genomes]
rs28722832	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35106416	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57426267	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57614343	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58424382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58590969	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152812	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153837	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7154613	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155485	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158164	0.94[ASN][1000 genomes]
rs8004566	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8008618	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009099	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8019222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987056	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:25430000-25465800	Weak transcription	Lung	lung
3	chr14:25435800-25443600	Weak transcription	Right Atrium	heart
4	chr14:25435800-25443800	Weak transcription	Fetal Brain Female	brain
5	chr14:25435800-25447400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:25436000-25443400	Weak transcription	Fetal Lung	lung
7	chr14:25436200-25441200	Weak transcription	Brain Substantia Nigra	brain
8	chr14:25436200-25441400	Weak transcription	HepG2	liver
9	chr14:25436200-25443200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:25436200-25447000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:25436200-25448000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:25436200-25451200	Weak transcription	A549	lung
13	chr14:25436400-25441200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:25436400-25441400	Weak transcription	Brain Anterior Caudate	brain
15	chr14:25436400-25443400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:25436400-25443400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:25436400-25443600	Weak transcription	Left Ventricle	heart
18	chr14:25436600-25441400	Weak transcription	HSMM	muscle
19	chr14:25436600-25454200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:25436600-25454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:25436600-25455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:25436800-25442000	Weak transcription	Pancreas	Pancrea
23	chr14:25436800-25451200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:25437200-25448000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:25438000-25441800	Enhancers	Fetal Heart	heart
26	chr14:25438200-25448000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:25440000-25441800	Enhancers	Brain Hippocampus Middle	brain
28	chr14:25440400-25441200	Enhancers	Colon Smooth Muscle	Colon
29	chr14:25440400-25441200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:25440400-25441400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:25440600-25441800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:25440600-25442000	Enhancers	Fetal Intestine Large	intestine
33	chr14:25440600-25442000	Enhancers	Fetal Intestine Small	intestine
34	chr14:25440800-25441200	Weak transcription	Brain Angular Gyrus	brain
35	chr14:25441000-25441600	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:25441000-25443200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:25441000-25454200	Weak transcription	Fetal Brain Male	brain

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