Variant report

Variant	rs9323580
Chromosome Location	chr14:25443740-25443741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10131274	0.91[CEU][hapmap];0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10132944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10134048	0.81[ASN][1000 genomes]
rs10137405	0.83[CEU][hapmap];0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10145076	0.81[ASN][1000 genomes]
rs11159009	0.99[ASN][1000 genomes]
rs11625143	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1555598	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109366	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17109401	0.81[ASN][1000 genomes]
rs17185460	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2038700	0.80[AMR][1000 genomes]
rs7141943	0.80[AMR][1000 genomes]
rs7143179	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155878	0.80[ASN][1000 genomes]
rs7157481	0.91[CEU][hapmap];0.95[AFR][1000 genomes]
rs7161210	0.81[ASN][1000 genomes]
rs724116	0.80[ASN][1000 genomes]
rs8009162	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011948	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017228	0.80[AMR][1000 genomes]
rs8017710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8021478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[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:34 , 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	chr14:25435800-25443800	Weak transcription	Fetal Brain Female	brain
4	chr14:25435800-25447400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:25436200-25447000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:25436200-25448000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:25436200-25451200	Weak transcription	A549	lung
8	chr14:25436600-25454200	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:25436600-25454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:25436600-25455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:25436800-25451200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:25437200-25448000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:25438200-25448000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:25441000-25454200	Weak transcription	Fetal Brain Male	brain
15	chr14:25441400-25443800	Strong transcription	HSMM	muscle
16	chr14:25441400-25445000	Weak transcription	Brain Angular Gyrus	brain
17	chr14:25441600-25444400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:25441600-25445000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:25441800-25444400	Weak transcription	Brain Anterior Caudate	brain
20	chr14:25442400-25444800	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:25442400-25444800	Weak transcription	Fetal Intestine Large	intestine
22	chr14:25442400-25445000	Weak transcription	Fetal Intestine Small	intestine
23	chr14:25443000-25445400	Enhancers	Fetal Heart	heart
24	chr14:25443200-25445400	Enhancers	Colon Smooth Muscle	Colon
25	chr14:25443400-25443800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:25443400-25443800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:25443400-25444200	Enhancers	Fetal Lung	lung
28	chr14:25443400-25445200	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:25443600-25443800	Genic enhancers	Left Ventricle	heart
30	chr14:25443600-25443800	Flanking Active TSS	Right Atrium	heart
31	chr14:25443600-25444000	Enhancers	Pancreas	Pancrea
32	chr14:25443600-25444200	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:25443600-25445800	Weak transcription	Small Intestine	intestine
34	chr14:25443600-25446200	Weak transcription	HepG2	liver

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