Variant report

Variant	rs34590849
Chromosome Location	chr14:70824697-70824698
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	chr14:70824691-70825065	HepG2	liver:	n/a	chr14:70824875-70824890
2	MAFK	chr14:70824620-70825064	IMR90	lung:	n/a	chr14:70824875-70824890
3	MAFK	chr14:70824696-70825061	HepG2	liver:	n/a	chr14:70824875-70824890
4	MAFF	chr14:70824695-70825066	HepG2	liver:	n/a	chr14:70824874-70824892
5	MAFK	chr14:70824580-70825154	GM12878	blood:	n/a	chr14:70824875-70824890

Variant related genes	Relation type
RNU2-51P	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]
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]
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
rs34590849	COX16	cis	Heart Left Ventricle	GTEx
rs34590849	COX16	cis	Muscle Skeletal	GTEx
rs34590849	RP11-718G2.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70792800-70825200	Weak transcription	NH-A	brain
2	chr14:70800000-70825000	Weak transcription	HSMM	muscle
3	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:70806600-70825200	Weak transcription	Fetal Kidney	kidney
11	chr14:70806800-70825600	Weak transcription	Small Intestine	intestine
12	chr14:70807800-70825200	Weak transcription	A549	lung
13	chr14:70811600-70825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:70813200-70825200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:70813200-70825400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:70813400-70824800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:70813400-70825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:70813600-70825400	Weak transcription	Placenta	Placenta
19	chr14:70814800-70825200	Weak transcription	Stomach Mucosa	stomach
20	chr14:70815000-70825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:70815600-70825000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:70816000-70824800	Weak transcription	Primary B cells from cord blood	blood
23	chr14:70816200-70825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:70816800-70824800	Weak transcription	Brain Germinal Matrix	brain
25	chr14:70817000-70825800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:70817200-70824800	Weak transcription	Fetal Intestine Large	intestine
27	chr14:70817200-70825000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:70817200-70825000	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:70817200-70825200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:70817200-70825200	Weak transcription	Fetal Stomach	stomach
31	chr14:70817400-70824800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:70817400-70824800	Weak transcription	Primary T cells from cord blood	blood
33	chr14:70817400-70825000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:70818000-70825200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr14:70819000-70825200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:70819800-70825200	Weak transcription	Fetal Lung	lung
37	chr14:70821000-70824800	Enhancers	Liver	Liver
38	chr14:70821000-70825200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:70821200-70825000	Weak transcription	Adipose Nuclei	Adipose
40	chr14:70821200-70825200	Weak transcription	HSMMtube	muscle
41	chr14:70821400-70824800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:70821400-70825200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:70821600-70824800	Weak transcription	Aorta	Aorta
44	chr14:70821800-70825400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:70822000-70825000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:70822400-70824800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:70822400-70825400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr14:70822800-70824800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:70822800-70825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:70822800-70825400	Weak transcription	Esophagus	oesophagus

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