Variant report

Variant	rs17185453
Chromosome Location	chr14:25429076-25429077
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10139814	0.96[ASN][1000 genomes]
rs11626436	0.94[JPT][hapmap]
rs17185509	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17257668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17257780	0.88[JPT][hapmap]
rs1886055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952494	0.88[JPT][hapmap]
rs2332464	0.88[JPT][hapmap]
rs58764839	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59366121	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59957224	0.93[EUR][1000 genomes]
rs60667968	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7151785	0.88[JPT][hapmap]
rs726519	0.88[JPT][hapmap]
rs8007052	0.88[JPT][hapmap]
rs8020392	0.88[JPT][hapmap]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25422600-25434000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:25423600-25429200	Weak transcription	Placenta	Placenta
3	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:25424800-25429200	Weak transcription	Gastric	stomach
5	chr14:25425000-25429600	Enhancers	HSMMtube	muscle
6	chr14:25425200-25429600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:25425800-25429400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:25426200-25430000	Enhancers	Brain Anterior Caudate	brain
9	chr14:25426400-25435000	Weak transcription	Aorta	Aorta
10	chr14:25426600-25430600	Enhancers	Fetal Intestine Small	intestine
11	chr14:25426800-25430600	Enhancers	Colon Smooth Muscle	Colon
12	chr14:25427000-25430000	Enhancers	Rectal Smooth Muscle	rectum
13	chr14:25427000-25430400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr14:25427000-25430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:25427200-25430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:25427200-25430600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:25427400-25430200	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:25427400-25430600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:25427400-25430600	Enhancers	Fetal Intestine Large	intestine
20	chr14:25427400-25431000	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:25427600-25429200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr14:25427600-25429400	Enhancers	HSMM	muscle
23	chr14:25427600-25430200	Enhancers	Brain Substantia Nigra	brain
24	chr14:25427800-25430400	Enhancers	Fetal Heart	heart
25	chr14:25427800-25430600	Enhancers	Fetal Stomach	stomach
26	chr14:25428000-25429200	Enhancers	Fetal Kidney	kidney
27	chr14:25428000-25430000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:25428000-25430000	Enhancers	NHLF	lung
29	chr14:25428000-25430200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:25428000-25430400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:25428000-25430600	Enhancers	Brain Angular Gyrus	brain
32	chr14:25428200-25429600	Enhancers	Fetal Lung	lung
33	chr14:25428200-25430000	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:25428200-25435000	Weak transcription	Osteobl	bone
35	chr14:25428400-25429600	Enhancers	Adipose Nuclei	Adipose
36	chr14:25428400-25429600	Enhancers	Right Atrium	heart
37	chr14:25428400-25430000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:25428400-25430000	Enhancers	Fetal Muscle Leg	muscle
39	chr14:25428400-25430000	Enhancers	Lung	lung
40	chr14:25428400-25430000	Enhancers	Psoas Muscle	Psoas
41	chr14:25428400-25430000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:25428400-25430000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:25428400-25430000	Enhancers	GM12878-XiMat	blood
44	chr14:25428400-25430200	Enhancers	Small Intestine	intestine
45	chr14:25428400-25430600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:25428400-25430600	Enhancers	Brain Hippocampus Middle	brain
47	chr14:25428600-25429600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:25428600-25430400	Enhancers	HepG2	liver
49	chr14:25428800-25429400	Enhancers	Stomach Mucosa	stomach
50	chr14:25428800-25430000	Enhancers	Rectal Mucosa Donor 29	rectum

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