Variant report

Variant	rs72717708
Chromosome Location	chr14:55799276-55799277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs17742621	0.82[AFR][1000 genomes]
rs35342573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35954941	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67626275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715735	0.86[EUR][1000 genomes]
rs72715743	1.00[AMR][1000 genomes]
rs72715749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715763	1.00[AMR][1000 genomes]
rs72715765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716688	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72716690	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72716692	0.86[EUR][1000 genomes]
rs72716698	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717713	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717733	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717743	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717746	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717748	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717749	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717751	0.82[AFR][1000 genomes]
rs72717754	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717759	0.82[AFR][1000 genomes]
rs72717766	0.83[AMR][1000 genomes]
rs72717777	0.86[EUR][1000 genomes]
rs72718806	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718810	0.86[EUR][1000 genomes]
rs72718813	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718815	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718818	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718819	1.00[AMR][1000 genomes]
rs72718821	1.00[AMR][1000 genomes]
rs72718822	1.00[AMR][1000 genomes]
rs72718824	1.00[AMR][1000 genomes]
rs72718831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3405710	chr14:55797224-55800072	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3429893	chr14:55797549-55799747	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55779600-55799600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:55779600-55801200	Weak transcription	Esophagus	oesophagus
4	chr14:55779800-55800800	Weak transcription	Adipose Nuclei	Adipose
5	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
6	chr14:55780600-55800600	Weak transcription	NHEK	skin
7	chr14:55780600-55806200	Weak transcription	HMEC	breast
8	chr14:55780800-55799400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:55780800-55800800	Weak transcription	Lung	lung
10	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:55781400-55799600	Weak transcription	NH-A	brain
12	chr14:55782000-55817200	Weak transcription	HSMM	muscle
13	chr14:55783200-55799400	Weak transcription	Fetal Thymus	thymus
14	chr14:55783600-55799400	Weak transcription	Pancreas	Pancrea
15	chr14:55783600-55800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:55783800-55799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:55784000-55799800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:55784200-55801200	Weak transcription	Fetal Stomach	stomach
19	chr14:55784600-55799400	Weak transcription	HSMMtube	muscle
20	chr14:55784600-55800800	Weak transcription	Gastric	stomach
21	chr14:55784800-55799600	Weak transcription	Fetal Kidney	kidney
22	chr14:55786800-55803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:55788600-55799400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:55788800-55800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
27	chr14:55790800-55799400	Weak transcription	Left Ventricle	heart
28	chr14:55791800-55800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:55793200-55800800	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:55794000-55801000	Weak transcription	Right Ventricle	heart
33	chr14:55794000-55801200	Weak transcription	Spleen	Spleen
34	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:55794400-55803000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:55795000-55806600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:55795200-55799400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:55795400-55800800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:55795400-55800800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:55795400-55801000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:55795600-55799400	Weak transcription	Psoas Muscle	Psoas
42	chr14:55795600-55799600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:55795800-55799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:55797600-55799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:55797600-55799600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:55797600-55799600	Weak transcription	Ovary	ovary
47	chr14:55797600-55799600	Weak transcription	Osteobl	bone
48	chr14:55797600-55799800	Weak transcription	NHLF	lung
49	chr14:55797600-55800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:55797600-55800800	Weak transcription	Right Atrium	heart

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