Variant report

Variant	rs72723840
Chromosome Location	chr14:69909800-69909801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69905430..69909394-chr14:69909607..69912590,4	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10130642	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131686	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10132626	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10137655	0.96[AMR][1000 genomes]
rs10137668	0.96[AMR][1000 genomes]
rs10142738	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150434	0.96[AMR][1000 genomes]
rs11620664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622130	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624756	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844803	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847666	0.91[ASN][1000 genomes]
rs12147167	0.96[AMR][1000 genomes]
rs12147983	0.96[AMR][1000 genomes]
rs12147999	0.96[AMR][1000 genomes]
rs12185028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12385913	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764155	0.91[ASN][1000 genomes]
rs1952255	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015547	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2061088	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168241	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28531897	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28616724	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286134	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45536240	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55751520	0.96[AMR][1000 genomes]
rs57148905	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57675317	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57941356	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59116152	0.96[AMR][1000 genomes]
rs59181716	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs60238702	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs61436917	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs61564515	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7143230	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152301	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155178	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161463	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72722198	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722199	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72723815	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723830	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723847	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72723850	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723857	0.96[AMR][1000 genomes]
rs74061833	0.93[AMR][1000 genomes]
rs8016334	0.91[ASN][1000 genomes]
rs8016618	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630395	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69868000-69923200	Weak transcription	Esophagus	oesophagus
2	chr14:69887400-69913000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:69889200-69922400	Weak transcription	Brain Substantia Nigra	brain
4	chr14:69889200-69923400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:69889400-69923200	Weak transcription	Pancreas	Pancrea
6	chr14:69890000-69922400	Weak transcription	Fetal Brain Male	brain
7	chr14:69890800-69922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:69891200-69922800	Weak transcription	Colonic Mucosa	Colon
9	chr14:69891200-69923000	Weak transcription	NHLF	lung
10	chr14:69892000-69920600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:69892200-69931400	Weak transcription	K562	blood
12	chr14:69893000-69919800	Weak transcription	Spleen	Spleen
13	chr14:69893000-69922800	Weak transcription	Aorta	Aorta
14	chr14:69893200-69926800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:69893400-69910800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:69893400-69922200	Weak transcription	Left Ventricle	heart
17	chr14:69893400-69922400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:69893400-69922600	Weak transcription	Brain Germinal Matrix	brain
19	chr14:69893400-69922800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:69893400-69923000	Weak transcription	Lung	lung
21	chr14:69893600-69920200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:69893600-69920400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:69893600-69922000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:69893600-69922400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:69893600-69922400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:69893600-69922800	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:69893600-69923200	Weak transcription	Gastric	stomach
28	chr14:69893600-69925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:69894000-69916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:69894000-69922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:69894000-69922800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:69894000-69924400	Weak transcription	Brain Angular Gyrus	brain
33	chr14:69894400-69919800	Weak transcription	Ovary	ovary
34	chr14:69894600-69909800	Weak transcription	HUVEC	blood vessel
35	chr14:69894600-69910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:69894600-69919200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:69894600-69920600	Weak transcription	Adipose Nuclei	Adipose
38	chr14:69894600-69921800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:69894600-69922200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:69894600-69922800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:69894800-69910000	Weak transcription	HMEC	breast
42	chr14:69895000-69910800	Weak transcription	Fetal Thymus	thymus
43	chr14:69895000-69911000	Weak transcription	NHDF-Ad	bronchial
44	chr14:69895000-69915000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:69895600-69919800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr14:69895600-69921400	Weak transcription	NH-A	brain
47	chr14:69895800-69910800	Weak transcription	A549	lung
48	chr14:69896800-69910200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:69896800-69911000	Weak transcription	Fetal Lung	lung
50	chr14:69896800-69922400	Weak transcription	Brain Anterior Caudate	brain

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