Variant report

Variant	rs72682980
Chromosome Location	chr14:25507660-25507661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10483293	0.90[ASN][1000 genomes]
rs12147239	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12432656	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17257773	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17257829	0.85[ASN][1000 genomes]
rs72682974	0.89[EUR][1000 genomes]
rs72682975	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72682982	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25479400-25508600	Weak transcription	Brain Anterior Caudate	brain
2	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
3	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:25503800-25515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:25504000-25511000	Weak transcription	Small Intestine	intestine
6	chr14:25504600-25509200	Weak transcription	Pancreas	Pancrea
7	chr14:25505200-25510400	Weak transcription	Fetal Intestine Large	intestine
8	chr14:25505400-25508600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:25505400-25509400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:25505600-25509200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:25506200-25509400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:25506400-25508600	Weak transcription	Right Ventricle	heart
13	chr14:25506600-25508600	Weak transcription	Left Ventricle	heart
14	chr14:25506600-25508800	Weak transcription	Lung	lung
15	chr14:25506600-25511400	Weak transcription	Right Atrium	heart
16	chr14:25506800-25510800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:25506800-25511200	Weak transcription	Brain Angular Gyrus	brain
18	chr14:25507000-25508600	Weak transcription	Stomach Mucosa	stomach
19	chr14:25507000-25510800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:25507000-25510800	Weak transcription	HSMMtube	muscle
21	chr14:25507000-25511000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:25507000-25511200	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:25507000-25511400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:25507000-25512000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:25507200-25511000	Weak transcription	Fetal Heart	heart
26	chr14:25507200-25511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:25507400-25508000	Genic enhancers	Fetal Lung	lung
28	chr14:25507400-25508200	Enhancers	Brain Substantia Nigra	brain
29	chr14:25507400-25508800	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:25507400-25509200	Weak transcription	HepG2	liver
31	chr14:25507600-25511600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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