Variant report

Variant	rs72717720
Chromosome Location	chr14:55817022-55817023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs35342573	1.00[AMR][1000 genomes];1.00[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]
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]
rs72717708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717713	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717733	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717758	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:1 , 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

No data

Chromatin state (count:126 , 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	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:55782000-55817200	Weak transcription	HSMM	muscle
4	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:55800000-55817200	Weak transcription	Dnd41	blood
7	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:55801000-55817200	Weak transcription	HepG2	liver
9	chr14:55801200-55817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:55801200-55817200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:55801200-55817200	Weak transcription	Liver	Liver
12	chr14:55801200-55817200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
14	chr14:55801400-55817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:55801400-55817400	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:55801600-55817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:55802200-55817400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:55803400-55817200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:55803400-55817200	Weak transcription	Placenta	Placenta
20	chr14:55803600-55817200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:55805200-55817200	Weak transcription	Fetal Intestine Large	intestine
22	chr14:55805800-55817600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:55806800-55820800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:55807000-55817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:55807000-55817600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:55807200-55817200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:55807200-55817200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:55807200-55817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:55807200-55817600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:55807200-55817800	Weak transcription	HSMMtube	muscle
31	chr14:55807400-55817200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:55807400-55817200	Weak transcription	Esophagus	oesophagus
33	chr14:55807400-55817200	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:55807400-55817200	Weak transcription	Fetal Stomach	stomach
35	chr14:55807400-55817200	Weak transcription	Fetal Thymus	thymus
36	chr14:55807400-55817600	Weak transcription	Aorta	Aorta
37	chr14:55807600-55817200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:55808000-55817200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:55808000-55817200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:55809200-55817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:55809600-55817200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:55811000-55817400	Weak transcription	A549	lung
44	chr14:55811200-55817200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:55811200-55817200	Weak transcription	Brain Angular Gyrus	brain
46	chr14:55811200-55820600	Weak transcription	Fetal Heart	heart
47	chr14:55811800-55817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:55812000-55817600	Weak transcription	Gastric	stomach
49	chr14:55812600-55817200	Weak transcription	NHDF-Ad	bronchial
50	chr14:55812800-55817200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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