Variant report

Variant	rs17880939
Chromosome Location	chr14:65410001-65410002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr14:65409362-65410001	HepG2	liver:	n/a	n/a
2	TCF12	chr14:65408664-65410141	A549	lung:	n/a	n/a
3	POLR2A	chr14:65409043-65410029	HepG2	liver:	n/a	n/a
4	MYBL2	chr14:65409269-65410054	HepG2	liver:	n/a	n/a
5	RCOR1	chr14:65409288-65410006	HepG2	liver:	n/a	n/a
6	EP300	chr14:65409115-65410041	A549	lung:	n/a	n/a
7	ZEB1	chr14:65409093-65410065	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:65409058-65413386	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65407129..65411344-chr14:65424634..65427852,4	MCF-7	breast:
2	chr14:65395801..65398640-chr14:65409977..65412797,2	K562	blood:
3	chr14:65409807..65412168-chr14:65438533..65440170,2	MCF-7	breast:
4	chr14:65408375..65411114-chr14:65437552..65439159,4	MCF-7	breast:
5	chr14:65379820..65382321-chr14:65409596..65411872,2	MCF-7	breast:
6	chr14:65380406..65382948-chr14:65406634..65410888,4	MCF-7	breast:
7	chr14:65409026..65413439-chr14:65416032..65420633,4	MCF-7	breast:

No data

Variant related genes	Relation type
GPX2	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs11621450	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11621527	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622077	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11625722	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626557	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11629410	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17752452	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17767942	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17767960	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17880303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17882875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17883358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1886506	0.96[ASN][1000 genomes]
rs2277502	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742599	0.98[ASN][1000 genomes]
rs4899156	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902331	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902347	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902348	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902349	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902350	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902351	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60796816	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145282	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72726275	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72726283	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72726294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72726300	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72726301	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72728209	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728213	0.96[EUR][1000 genomes]
rs72728215	0.95[EUR][1000 genomes]
rs8021599	0.81[AMR][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs17880939	CHURC1	cis	Heart Left Ventricle	GTEx
rs17880939	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs17880939	CHURC1	cis	Artery Tibial	GTEx
rs17880939	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs17880939	CHURC1	cis	multi-tissue	Pritchard
rs17880939	CHURC1	cis	Muscle Skeletal	GTEx
rs17880939	CHURC1	cis	lung	GTEx
rs17880939	CHURC1	cis	Thyroid	GTEx
rs17880939	CHURC1	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
3	chr14:65383000-65419400	Weak transcription	K562	blood
4	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:65396000-65410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:65396000-65413600	Weak transcription	Fetal Brain Female	brain
7	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:65397400-65411200	Strong transcription	Dnd41	blood
9	chr14:65399000-65428000	Weak transcription	NHLF	lung
10	chr14:65399200-65412400	Weak transcription	Brain Germinal Matrix	brain
11	chr14:65400000-65410400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:65400400-65415200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:65400800-65410200	Weak transcription	Fetal Lung	lung
15	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
16	chr14:65401600-65412400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:65401600-65413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:65401600-65435000	Weak transcription	NH-A	brain
19	chr14:65401800-65412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:65402400-65415000	Weak transcription	Osteobl	bone
21	chr14:65402600-65410200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:65403000-65412800	Strong transcription	Thymus	Thymus
23	chr14:65403400-65414600	Weak transcription	Left Ventricle	heart
24	chr14:65404000-65410600	Enhancers	Pancreas	Pancrea
25	chr14:65404000-65412200	Strong transcription	Fetal Thymus	thymus
26	chr14:65404400-65410200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:65404400-65410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:65404400-65414200	Weak transcription	Right Ventricle	heart
29	chr14:65404400-65415000	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:65404400-65416600	Weak transcription	Psoas Muscle	Psoas
31	chr14:65404400-65419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:65404600-65410400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:65404600-65410600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:65404600-65412200	Weak transcription	Brain Anterior Caudate	brain
35	chr14:65404600-65413400	Weak transcription	HSMMtube	muscle
36	chr14:65404600-65414600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:65404600-65415600	Weak transcription	Fetal Heart	heart
38	chr14:65404600-65418200	Weak transcription	Brain Angular Gyrus	brain
39	chr14:65404600-65419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:65404800-65415000	Weak transcription	Ovary	ovary
41	chr14:65405000-65417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:65405200-65410400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:65405400-65413200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:65405600-65410200	Strong transcription	Fetal Muscle Leg	muscle
45	chr14:65405800-65416200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:65406000-65413000	Strong transcription	Adipose Nuclei	Adipose
47	chr14:65406200-65410200	Weak transcription	Lung	lung
48	chr14:65406200-65411000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:65406400-65415600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:65406600-65410200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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