Variant report

Variant	rs72733767
Chromosome Location	chr14:70809496-70809497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12879256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12879701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880065	0.82[EUR][1000 genomes]
rs12885170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888630	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12889575	0.85[EUR][1000 genomes]
rs12889618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890852	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891402	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898006	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506335	0.82[EUR][1000 genomes]
rs34590849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34620351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658788	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35034872	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35224988	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35547503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697534	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35997384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66495513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67417438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67434384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733782	1.00[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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72733767	COX16	cis	Heart Left Ventricle	GTEx
rs72733767	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs72733767	COX16	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
3	chr14:70792800-70825200	Weak transcription	NH-A	brain
4	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:70799800-70810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:70799800-70811200	Weak transcription	Left Ventricle	heart
8	chr14:70799800-70811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:70799800-70811400	Weak transcription	Lung	lung
10	chr14:70799800-70811600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:70799800-70812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:70800000-70811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:70800000-70825000	Weak transcription	HSMM	muscle
14	chr14:70800600-70821000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:70800800-70815000	Weak transcription	Right Ventricle	heart
16	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:70801200-70810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:70801200-70810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:70801200-70811200	Weak transcription	Thymus	Thymus
20	chr14:70801200-70811400	Weak transcription	Esophagus	oesophagus
21	chr14:70801200-70811600	Weak transcription	Pancreas	Pancrea
22	chr14:70801200-70815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:70801200-70815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:70801200-70822000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:70801400-70811400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:70801400-70811600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:70801400-70812600	Weak transcription	HepG2	liver
30	chr14:70801400-70813000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:70801600-70810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:70801800-70810200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
34	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:70802200-70812800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:70802200-70813400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:70802200-70815200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:70802200-70822200	Weak transcription	NHEK	skin
40	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
41	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
42	chr14:70802800-70811400	Weak transcription	Fetal Brain Male	brain
43	chr14:70804200-70810400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:70805000-70810600	Weak transcription	Fetal Stomach	stomach
45	chr14:70805000-70811200	Weak transcription	Brain Germinal Matrix	brain
46	chr14:70805000-70813000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:70805000-70819000	ZNF genes & repeats	GM12878-XiMat	blood
48	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:70805200-70809800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:70805200-70810600	Weak transcription	Fetal Muscle Leg	muscle

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