Variant report

Variant	rs17109518
Chromosome Location	chr14:25506439-25506440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10483292	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11626436	0.88[ASW][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs17109336	1.00[MEX][hapmap]
rs17109509	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs17109521	0.83[YRI][hapmap];0.89[AFR][1000 genomes]
rs17109529	0.83[YRI][hapmap];0.88[AFR][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	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	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
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25479400-25508600	Weak transcription	Brain Anterior Caudate	brain
2	chr14:25481200-25507400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
4	chr14:25495400-25507400	Weak transcription	Fetal Lung	lung
5	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:25503800-25515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:25504000-25511000	Weak transcription	Small Intestine	intestine
8	chr14:25504600-25509200	Weak transcription	Pancreas	Pancrea
9	chr14:25504800-25507400	Enhancers	HepG2	liver
10	chr14:25505000-25507000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:25505200-25510400	Weak transcription	Fetal Intestine Large	intestine
12	chr14:25505400-25508600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:25505400-25509400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:25505600-25506600	Weak transcription	Stomach Mucosa	stomach
15	chr14:25505600-25509200	Weak transcription	Fetal Intestine Small	intestine
16	chr14:25506200-25506600	Enhancers	Left Ventricle	heart
17	chr14:25506200-25506600	Enhancers	Lung	lung
18	chr14:25506200-25506600	Enhancers	Right Atrium	heart
19	chr14:25506200-25506800	Enhancers	Brain Angular Gyrus	brain
20	chr14:25506200-25507000	Enhancers	Colon Smooth Muscle	Colon
21	chr14:25506200-25507000	Enhancers	Stomach Smooth Muscle	stomach
22	chr14:25506200-25507200	Enhancers	Fetal Heart	heart
23	chr14:25506200-25509400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:25506400-25507000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:25506400-25507200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:25506400-25508600	Weak transcription	Right Ventricle	heart

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