Variant report

Variant	rs72733778
Chromosome Location	chr14:70827266-70827267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:70827212-70827310	IMR90	lung:	n/a	chr14:70827240-70827249
2	HCFC1	chr14:70825509-70827458	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RNU2-51P	TF binding region
COX16	TF binding region

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]
rs72733767	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
rs72733778	COX16	cis	Heart Left Ventricle	GTEx
rs72733778	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs72733778	COX16	cis	Muscle Skeletal	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70824600-70827400	Active TSS	GM12878-XiMat	blood
2	chr14:70824800-70827400	Active TSS	Stomach Smooth Muscle	stomach
3	chr14:70824800-70827600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:70825200-70827400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:70825200-70827400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:70825200-70827400	Active TSS	NHDF-Ad	bronchial
7	chr14:70825200-70827600	Active TSS	Right Atrium	heart
8	chr14:70825400-70827400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:70825600-70827400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:70825600-70827400	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:70825800-70827400	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr14:70825800-70827400	Active TSS	Brain Angular Gyrus	brain
13	chr14:70825800-70827400	Active TSS	Brain Anterior Caudate	brain
14	chr14:70826600-70839600	Weak transcription	Gastric	stomach
15	chr14:70826800-70827400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:70826800-70827400	Enhancers	Dnd41	blood
17	chr14:70826800-70839600	Weak transcription	Spleen	Spleen
18	chr14:70826800-70842000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:70826800-70857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:70827000-70827400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:70827000-70827400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr14:70827000-70827400	Enhancers	HSMM	muscle
23	chr14:70827000-70831000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:70827000-70833800	Weak transcription	HepG2	liver
25	chr14:70827000-70836800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:70827000-70837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:70827000-70837000	Weak transcription	Left Ventricle	heart
28	chr14:70827000-70837200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:70827000-70837200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:70827000-70837200	Weak transcription	HMEC	breast
31	chr14:70827000-70837200	Weak transcription	HSMMtube	muscle
32	chr14:70827000-70837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:70827000-70837400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:70827000-70838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:70827000-70838000	Weak transcription	Ovary	ovary
36	chr14:70827000-70838200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:70827000-70838400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:70827000-70839200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:70827000-70839200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:70827000-70839400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:70827000-70839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:70827000-70839600	Weak transcription	Pancreas	Pancrea
43	chr14:70827000-70840000	Weak transcription	Psoas Muscle	Psoas
44	chr14:70827000-70842200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:70827000-70855200	Weak transcription	Esophagus	oesophagus
46	chr14:70827000-70857600	Weak transcription	Small Intestine	intestine
47	chr14:70827000-70864200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:70827200-70827400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:70827200-70827400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr14:70827200-70827400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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