Variant report

Variant	rs10138980
Chromosome Location	chr14:63733957-63733958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10139434	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148219	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162301	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483767	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10483768	0.95[ASN][1000 genomes]
rs11847980	0.81[ASN][1000 genomes]
rs17100956	0.95[ASN][1000 genomes]
rs17224456	0.90[EUR][1000 genomes]
rs17765362	0.81[ASN][1000 genomes]
rs1955670	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955681	0.92[EUR][1000 genomes]
rs28696286	0.81[ASN][1000 genomes]
rs57673534	0.92[EUR][1000 genomes]
rs8013013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
2	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
3	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:63730800-63734000	Weak transcription	Pancreas	Pancrea
5	chr14:63730800-63766000	Weak transcription	Spleen	Spleen
6	chr14:63731800-63734400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:63732200-63734200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:63732400-63734000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:63732400-63734000	Enhancers	HMEC	breast
10	chr14:63732800-63734000	Enhancers	NHEK	skin
11	chr14:63733000-63735800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:63733200-63740200	Weak transcription	Ovary	ovary
13	chr14:63733400-63734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:63733600-63734000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:63733600-63734200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:63733600-63734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:63733600-63734200	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:63733600-63734200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr14:63733600-63734200	Enhancers	Left Ventricle	heart
20	chr14:63733600-63734200	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:63733600-63734400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:63733600-63734400	Genic enhancers	Fetal Stomach	stomach
23	chr14:63733600-63734400	Enhancers	Lung	lung
24	chr14:63733600-63734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:63733600-63734600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:63733600-63734600	Enhancers	Esophagus	oesophagus
27	chr14:63733600-63735800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:63733600-63736000	Enhancers	Fetal Brain Male	brain
29	chr14:63733600-63740200	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:63733800-63734000	Enhancers	Right Ventricle	heart
31	chr14:63733800-63734400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:63733800-63734400	Enhancers	Psoas Muscle	Psoas
33	chr14:63733800-63734400	Enhancers	NH-A	brain
34	chr14:63733800-63742200	Strong transcription	HUVEC	blood vessel

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