Variant report

Variant	rs72726294
Chromosome Location	chr14:65381022-65381023
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	POLR2A	chr14:65381018-65381522	GM10847	blood:	n/a	n/a
2	POLR2A	chr14:65380891-65381883	HUVEC	blood vessel:	n/a	n/a
3	SIX5	chr14:65380805-65381521	A549	lung:	n/a	n/a
4	FOXA1	chr14:65380928-65381332	T-47D	breast:	n/a	n/a
5	FOXP2	chr14:65380898-65381244	PFSK-1	brain:	n/a	n/a
6	ZBTB33	chr14:65380785-65381710	A549	lung:	n/a	chr14:65381152-65381162 chr14:65381158-65381165 chr14:65381152-65381167
7	CHD2	chr14:65380828-65381704	HepG2	liver:	n/a	chr14:65381154-65381163
8	YY1	chr14:65380949-65381336	K562	blood:	n/a	n/a
9	ZEB1	chr14:65380905-65381444	GM12878	blood:	n/a	n/a
10	ELK1	chr14:65380982-65381685	K562	blood:	n/a	chr14:65381547-65381556 chr14:65381547-65381556
11	YY1	chr14:65380845-65381285	HCT-116	colon:	n/a	n/a
12	EGR1	chr14:65380857-65381286	ECC-1	luminal epithelium:	n/a	chr14:65381012-65381034
13	POLR2A	chr14:65380719-65381781	HCT-116	colon:	n/a	n/a
14	ELF1	chr14:65380692-65381868	HCT-116	colon:	n/a	chr14:65381547-65381558 chr14:65381173-65381182 chr14:65381172-65381181 chr14:65381547-65381558
15	ZKSCAN1	chr14:65380879-65381412	Hela-S3	cervix:	n/a	n/a
16	MAX	chr14:65380731-65381560	A549	lung:	n/a	n/a
17	ZBTB33	chr14:65380766-65381531	HCT-116	colon:	n/a	chr14:65381152-65381162 chr14:65381158-65381165 chr14:65381152-65381167
18	ELF1	chr14:65380675-65381854	HCT-116	colon:	n/a	chr14:65381547-65381558 chr14:65381173-65381182 chr14:65381172-65381181 chr14:65381547-65381558
19	ZNF143	chr14:65380903-65381281	Hela-S3	cervix:	n/a	n/a
20	MYC	chr14:65380842-65381353	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr14:65380740-65381689	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr14:65380949-65381510	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr14:65380999-65382077	K562	blood:	n/a	n/a
24	REST	chr14:65380825-65381446	A549	lung:	n/a	n/a
25	SIX5	chr14:65381005-65381303	A549	lung:	n/a	n/a
26	POLR2A	chr14:65380805-65382343	GM12878	blood:	n/a	n/a
27	REST	chr14:65380706-65381653	A549	lung:	n/a	n/a
28	SIN3AK20	chr14:65380652-65381804	MCF-7	breast:	n/a	n/a
29	MAX	chr14:65380899-65381448	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr14:65380804-65382399	GM12878	blood:	n/a	n/a
31	REST	chr14:65381013-65381532	HL-60	blood:	n/a	n/a
32	GTF2F1	chr14:65380910-65381284	K562	blood:	n/a	n/a
33	GABPA	chr14:65381009-65381851	A549	lung:	n/a	chr14:65381128-65381137
34	HEY1	chr14:65381016-65381354	HepG2	liver:	n/a	n/a
35	REST	chr14:65380892-65381347	SK-N-SH	brain:	n/a	n/a
36	CEBPB	chr14:65380815-65381788	GM12878	blood:	n/a	n/a
37	TEAD4	chr14:65380963-65381357	K562	blood:	n/a	n/a
38	ZBTB33	chr14:65380844-65381774	SK-N-SH	brain:	n/a	chr14:65381152-65381162 chr14:65381158-65381165 chr14:65381152-65381167
39	MBD4	chr14:65380934-65381422	HepG2	liver:	n/a	n/a
40	STAT3	chr14:65380780-65381393	MCF10A-Er-Src	breast:	n/a	chr14:65381171-65381180 chr14:65381165-65381185 chr14:65381171-65381179 chr14:65381170-65381179 chr14:65381165-65381185 chr14:65381169-65381180 chr14:65381319-65381342
41	EGR1	chr14:65380869-65381156	GM12878	blood:	n/a	chr14:65381012-65381034
42	EGR1	chr14:65380914-65381291	K562	blood:	n/a	chr14:65381012-65381034
43	TCF12	chr14:65380997-65381430	A549	lung:	n/a	n/a
44	IRF1	chr14:65380952-65381358	K562	blood:	n/a	chr14:65381070-65381084
45	SIN3A	chr14:65380896-65381608	GM12878	blood:	n/a	chr14:65381352-65381363
46	BACH1	chr14:65380756-65381594	H1-hESC	embryonic stem cell:	n/a	n/a
47	ETS1	chr14:65380913-65381678	A549	lung:	n/a	chr14:65381547-65381556 chr14:65381547-65381556 chr14:65381544-65381560 chr14:65381354-65381367 chr14:65381547-65381556 chr14:65381547-65381556 chr14:65381545-65381555 chr14:65381547-65381556 chr14:65381154-65381163 chr14:65381547-65381556 chr14:65381545-65381556 chr14:65381157-65381166 chr14:65381547-65381556
48	POLR2A	chr14:65380742-65381876	SK-N-SH	brain:	n/a	n/a
49	ELF1	chr14:65380963-65381684	SK-N-SH	brain:	n/a	chr14:65381547-65381558 chr14:65381173-65381182 chr14:65381172-65381181 chr14:65381547-65381558
50	ZBTB33	chr14:65380981-65381390	HepG2	liver:	n/a	chr14:65381152-65381162 chr14:65381158-65381165 chr14:65381152-65381167

No.	Distal block	Cell Line	Cell type
1	chr14:65380878..65381662-chr4:151936098..151937031,2	HCT-116	colon:
2	chr14:64853920..64855626-chr14:65380962..65383011,2	MCF-7	breast:
3	chr14:65380105..65382840-chr14:65437077..65439744,4	MCF-7	breast:
4	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
5	chr1:160231806..160232339-chr14:65380843..65381378,2	NB4	blood:
6	chr14:65380406..65382948-chr14:65406634..65410888,4	MCF-7	breast:
7	chr14:65380332..65384001-chr14:65388831..65392561,3	K562	blood:
8	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
9	chr1:224370494..224371298-chr14:65380984..65381699,2	NB4	blood:
10	chr14:65264248..65268196-chr14:65377647..65381035,3	MCF-7	breast:
11	chr14:65380579..65384480-chr14:65390113..65394782,6	MCF-7	breast:
12	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:
13	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
14	chr1:245027405..245028087-chr14:65380799..65381715,2	Hela-S3	cervix:
15	chr14:65380374..65382697-chr14:65453453..65455560,2	MCF-7	breast:

Variant related genes	Relation type
FNTB	TF binding region
CHURC1	TF binding region
RPPH1-2P	TF binding region
CHURC1-FNTB	TF binding region
ENSG00000153187	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000273175	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000198589	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000176153	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11621450	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11621527	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622077	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11623705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11626557	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11629410	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17752452	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767942	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767960	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17880303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17880939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17882875	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17883358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886506	0.93[ASN][1000 genomes]
rs2277502	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742599	0.96[ASN][1000 genomes]
rs4899156	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902331	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902347	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902348	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902349	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902350	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902351	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60796816	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145282	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72726275	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72726283	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72726300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72726301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728209	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72728213	0.92[EUR][1000 genomes]
rs72728215	0.91[EUR][1000 genomes]
rs8021599	0.81[AMR][1000 genomes];0.82[EUR][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	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs72726294	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs72726294	CHURC1	cis	lung	GTEx
rs72726294	CHURC1	cis	Muscle Skeletal	GTEx
rs72726294	CHURC1	cis	Whole Blood	GTEx
rs72726294	CHURC1	cis	Thyroid	GTEx
rs72726294	CHURC1	cis	Heart Left Ventricle	GTEx
rs72726294	CHURC1	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65380400-65381800	Active TSS	Brain Cingulate Gyrus	brain
2	chr14:65380400-65381800	Active TSS	Stomach Smooth Muscle	stomach
3	chr14:65380400-65382000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:65380400-65382000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65380600-65381200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr14:65380600-65381200	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr14:65380600-65381600	Active TSS	Rectal Smooth Muscle	rectum
8	chr14:65380600-65381800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr14:65380600-65381800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:65380600-65381800	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr14:65380600-65381800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:65380600-65381800	Active TSS	Brain Angular Gyrus	brain
13	chr14:65380600-65381800	Active TSS	Brain Germinal Matrix	brain
14	chr14:65380600-65381800	Active TSS	Brain Hippocampus Middle	brain
15	chr14:65380600-65381800	Active TSS	Brain Substantia Nigra	brain
16	chr14:65380600-65381800	Active TSS	Colon Smooth Muscle	Colon
17	chr14:65380600-65381800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr14:65380600-65381800	Active TSS	Fetal Brain Male	brain
19	chr14:65380600-65381800	Active TSS	Fetal Kidney	kidney
20	chr14:65380600-65381800	Active TSS	Fetal Muscle Trunk	muscle
21	chr14:65380600-65381800	Active TSS	Fetal Stomach	stomach
22	chr14:65380600-65381800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr14:65380600-65381800	Active TSS	Right Atrium	heart
24	chr14:65380600-65381800	Active TSS	Right Ventricle	heart
25	chr14:65380600-65382000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:65380600-65382000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65380600-65382000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:65380600-65382000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:65380600-65382000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr14:65380600-65382000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:65380600-65382000	Active TSS	Aorta	Aorta
32	chr14:65380600-65382000	Active TSS	Brain Anterior Caudate	brain
33	chr14:65380600-65382000	Active TSS	NHDF-Ad	bronchial
34	chr14:65380600-65382000	Active TSS	NHLF	lung
35	chr14:65380600-65382200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:65380600-65382200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:65380600-65382200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr14:65380600-65382200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:65380600-65382200	Active TSS	Ovary	ovary
40	chr14:65380600-65382400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr14:65380600-65382400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr14:65380600-65382400	Active TSS	GM12878-XiMat	blood
43	chr14:65380600-65382400	Active TSS	K562	blood
44	chr14:65380600-65382800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:65380800-65381200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:65380800-65381200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:65380800-65381400	Bivalent/Poised TSS	HepG2	liver
48	chr14:65380800-65381600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:65380800-65381600	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr14:65380800-65381600	Active TSS	Fetal Heart	heart

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