Variant report

Variant	rs72717705
Chromosome Location	chr14:55791688-55791689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55786690..55789032-chr14:55789842..55793812,3	K562	blood:
2	chr14:55738271..55740206-chr14:55791404..55794300,2	K562	blood:

Variant related genes	Relation type
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs35342573	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715735	0.86[EUR][1000 genomes]
rs72715743	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72715749	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715752	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715758	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715763	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72715765	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715773	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716681	1.00[AMR][1000 genomes];0.86[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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717707	1.00[AFR][1000 genomes];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	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	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	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718847	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718856	0.88[AFR][1000 genomes];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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55777000-55792800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:55777000-55795000	Weak transcription	NHDF-Ad	bronchial
3	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:55777400-55795000	Weak transcription	Osteobl	bone
5	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:55779200-55793800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:55779200-55798800	Weak transcription	K562	blood
8	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
9	chr14:55779600-55795200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:55779600-55796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:55779600-55796800	Weak transcription	Ovary	ovary
12	chr14:55779600-55797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:55779600-55799600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:55779600-55801200	Weak transcription	Esophagus	oesophagus
15	chr14:55779800-55794400	Weak transcription	HepG2	liver
16	chr14:55779800-55794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:55779800-55795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:55779800-55800800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:55780000-55797200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:55780000-55797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:55780200-55792600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:55780200-55793600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
24	chr14:55780400-55793600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:55780600-55792600	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:55780600-55795200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:55780600-55796800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:55780600-55799000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:55780600-55800600	Weak transcription	NHEK	skin
30	chr14:55780600-55806200	Weak transcription	HMEC	breast
31	chr14:55780800-55799400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:55780800-55800800	Weak transcription	Lung	lung
33	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:55781400-55799600	Weak transcription	NH-A	brain
35	chr14:55782000-55817200	Weak transcription	HSMM	muscle
36	chr14:55782200-55792400	Weak transcription	Brain Anterior Caudate	brain
37	chr14:55782600-55792600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:55782600-55795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:55782600-55796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:55782800-55792600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:55782800-55792600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:55782800-55792600	Weak transcription	Brain Germinal Matrix	brain
43	chr14:55783000-55798800	Weak transcription	Liver	Liver
44	chr14:55783200-55792600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:55783200-55799400	Weak transcription	Fetal Thymus	thymus
46	chr14:55783400-55797400	Weak transcription	Stomach Mucosa	stomach
47	chr14:55783600-55797200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:55783600-55799000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:55783600-55799400	Weak transcription	Pancreas	Pancrea
50	chr14:55783600-55800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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