Variant report

Variant	rs72723850
Chromosome Location	chr14:69936395-69936396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10130642	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10131686	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10137655	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10137668	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10142738	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148090	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10150434	0.96[AMR][1000 genomes]
rs11620664	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622130	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624753	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624756	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11626070	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11844803	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11847666	0.86[ASN][1000 genomes]
rs12147167	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12147983	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12147999	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12185028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12385913	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17106979	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17764155	0.86[ASN][1000 genomes]
rs1952255	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2015547	0.83[ASN][1000 genomes]
rs2061088	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168241	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28531897	0.86[ASN][1000 genomes]
rs28616724	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35286134	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45536240	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55751520	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs57148905	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57675317	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57941356	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59116152	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs59181716	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs60238702	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs61436917	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs61564515	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7143230	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7152301	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7155178	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161463	0.86[ASN][1000 genomes]
rs72722198	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72722199	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72723815	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723830	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723840	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723857	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs74061833	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8016334	0.86[ASN][1000 genomes]
rs8016618	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9630395	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
2	chr14:69923600-69950400	Weak transcription	Gastric	stomach
3	chr14:69925400-69939600	Weak transcription	Pancreas	Pancrea
4	chr14:69925400-69942000	Weak transcription	Spleen	Spleen
5	chr14:69925600-69940000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69925600-69940000	Weak transcription	Hela-S3	cervix
7	chr14:69926000-69940000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:69926000-69940000	Weak transcription	Fetal Intestine Small	intestine
9	chr14:69926200-69937200	Weak transcription	Left Ventricle	heart
10	chr14:69927800-69939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:69928000-69941000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
13	chr14:69928800-69940200	Weak transcription	Thymus	Thymus
14	chr14:69928800-69940400	Weak transcription	Adipose Nuclei	Adipose
15	chr14:69928800-69941000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:69929000-69938800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:69929000-69940200	Weak transcription	HSMMtube	muscle
18	chr14:69929000-69940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:69929000-69941400	Weak transcription	Ovary	ovary
20	chr14:69929400-69938800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:69929400-69940200	Weak transcription	Placenta	Placenta
22	chr14:69931800-69938200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:69931800-69940000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:69935000-69936600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr14:69935200-69936400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr14:69935200-69936600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:69935800-69936400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:69936200-69940200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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