Variant report

Variant	rs72728215
Chromosome Location	chr14:65427761-65427762
allele	A/G
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	TEAD4	chr14:65427332-65427854	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr14:65427471-65428095	MCF-7	breast:	n/a	n/a
3	TCF7L2	chr14:65427590-65427835	MCF-7	breast:	n/a	n/a
4	ZNF217	chr14:65427553-65428158	MCF-7	breast:	n/a	n/a
5	CHD2	chr14:65427459-65427870	H1-hESC	embryonic stem cell:	n/a	n/a
6	GATA3	chr14:65427550-65427997	T-47D	breast:	n/a	n/a
7	RAD21	chr14:65427334-65428127	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr14:65427254-65428183	MCF-7	breast:	n/a	chr14:65427681-65427691
9	TCF12	chr14:65427478-65427912	ECC-1	luminal epithelium:	n/a	chr14:65427681-65427691
10	MAX	chr14:65426488-65428322	MCF-7	breast:	n/a	chr14:65426954-65426963 chr14:65427960-65427976 chr14:65427936-65427946
11	RAD21	chr14:65427284-65427821	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:65427652-65427856	MCF-7	breast:	n/a	n/a
13	RAD21	chr14:65427353-65428185	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:65427182-65427872	A549	lung:	n/a	chr14:65427579-65427592
15	ZNF143	chr14:65427477-65427768	H1-hESC	embryonic stem cell:	n/a	n/a
16	GATA3	chr14:65427551-65428026	T-47D	breast:	n/a	n/a
17	TEAD4	chr14:65427353-65427855	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr14:65427523-65428010	T-47D	breast:	n/a	chr14:65427569-65427578
19	EP300	chr14:65427491-65428171	MCF-7	breast:	n/a	chr14:65427569-65427578
20	MYC	chr14:65427625-65427853	H1-hESC	embryonic stem cell:	n/a	n/a
21	GATA3	chr14:65427094-65428342	MCF-7	breast:	n/a	chr14:65428194-65428201
22	MAX	chr14:65427377-65428284	MCF-7	breast:	n/a	chr14:65427960-65427976 chr14:65427936-65427946
23	TCF12	chr14:65427431-65427777	H1-hESC	embryonic stem cell:	n/a	chr14:65427681-65427691
24	HDAC2	chr14:65427351-65428438	MCF-7	breast:	n/a	n/a
25	MAX	chr14:65427492-65428168	ECC-1	luminal epithelium:	n/a	chr14:65427960-65427976 chr14:65427936-65427946
26	NFIC	chr14:65427410-65428017	ECC-1	luminal epithelium:	n/a	chr14:65427699-65427716
27	MXI1	chr14:65427681-65427762	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr14:65427433-65428356	MCF-7	breast:	n/a	chr14:65427567-65427578
29	MAX	chr14:65427393-65428129	H1-hESC	embryonic stem cell:	n/a	chr14:65427960-65427976 chr14:65427936-65427946
30	TCF12	chr14:65427467-65428087	ECC-1	luminal epithelium:	n/a	chr14:65427681-65427691
31	FOXA1	chr14:65427577-65427886	T-47D	breast:	n/a	n/a
32	RAD21	chr14:65427430-65428159	MCF-7	breast:	n/a	n/a
33	NR2F2	chr14:65427399-65428384	MCF-7	breast:	n/a	n/a
34	GATA3	chr14:65427211-65428347	MCF-7	breast:	n/a	chr14:65428194-65428201
35	MYC	chr14:65427626-65428034	MCF-7	breast:	n/a	chr14:65427960-65427976 chr14:65427936-65427946
36	ESR1	chr14:65427559-65428065	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3AK20	chr14:65427332-65428299	MCF-7	breast:	n/a	n/a
38	GATA3	chr14:65427610-65427944	MCF-7	breast:	n/a	n/a
39	MXI1	chr14:65427177-65428574	SK-N-SH	brain:	n/a	n/a
40	NR2F2	chr14:65427323-65428521	MCF-7	breast:	n/a	n/a
41	POLR2A	chr14:65427650-65427838	ProgFib	skin:	n/a	n/a
42	GATA3	chr14:65427637-65427975	SH-SY5Y	brain:	n/a	n/a
43	RAD21	chr14:65427430-65427766	H1-hESC	embryonic stem cell:	n/a	n/a
44	GATA3	chr14:65427473-65428180	MCF-7	breast:	n/a	n/a
45	GATA2	chr14:65426705-65427965	SH-SY5Y	brain:	n/a	n/a
46	CTCF	chr14:65427383-65428058	H1-hESC	embryonic stem cell:	n/a	chr14:65427579-65427592
47	MYC	chr14:65427548-65428067	MCF-7	breast:	n/a	chr14:65427960-65427976 chr14:65427936-65427946
48	CTCF	chr14:65427640-65427790	HRE	kidney:	n/a	n/a
49	RAD21	chr14:65427383-65427807	HepG2	liver:	n/a	n/a
50	FOXM1	chr14:65427404-65428242	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65221708..65223520-chr14:65425560..65427904,2	MCF-7	breast:
2	chr14:65407129..65411344-chr14:65424634..65427852,4	MCF-7	breast:
3	chr14:65409296..65411152-chr14:65426645..65429491,2	MCF-7	breast:
4	chr14:65426546..65429390-chr14:65452046..65455184,4	MCF-7	breast:
5	chr14:65426410..65429284-chr14:65447447..65450019,2	MCF-7	breast:

Variant related genes	Relation type
RAB15	TF binding region
ENSG00000257365	Chromatin interaction
ENSG00000176153	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11621450	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11621527	0.89[EUR][1000 genomes]
rs11622077	0.90[EUR][1000 genomes]
rs11623705	0.94[EUR][1000 genomes]
rs11624878	0.91[EUR][1000 genomes]
rs11625722	0.91[EUR][1000 genomes]
rs11626557	0.89[EUR][1000 genomes]
rs11629410	0.89[EUR][1000 genomes]
rs17752452	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17767942	0.91[EUR][1000 genomes]
rs17767960	0.91[EUR][1000 genomes]
rs17880303	0.94[EUR][1000 genomes]
rs17880939	0.95[EUR][1000 genomes]
rs17882875	0.95[EUR][1000 genomes]
rs17883358	0.92[EUR][1000 genomes]
rs2277502	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4899156	0.92[EUR][1000 genomes]
rs4902331	0.91[EUR][1000 genomes]
rs4902347	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4902348	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4902349	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4902350	0.91[EUR][1000 genomes]
rs4902351	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60796816	0.91[EUR][1000 genomes]
rs7145282	0.85[EUR][1000 genomes]
rs72726275	0.90[EUR][1000 genomes]
rs72726283	0.87[EUR][1000 genomes]
rs72726294	0.91[EUR][1000 genomes]
rs72726300	0.91[EUR][1000 genomes]
rs72726301	0.91[EUR][1000 genomes]
rs72728209	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72728213	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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	esv33119	chr14:65421491-65434429	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs72728215	CHURC1	cis	Heart Left Ventricle	GTEx
rs72728215	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs72728215	CHURC1	cis	lung	GTEx
rs72728215	CHURC1	cis	Artery Tibial	GTEx
rs72728215	CHURC1	cis	Whole Blood	GTEx
rs72728215	CHURC1	cis	Thyroid	GTEx
rs72728215	CHURC1	cis	Muscle Skeletal	GTEx
rs72728215	CHURC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65399000-65428000	Weak transcription	NHLF	lung
2	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
3	chr14:65401600-65435000	Weak transcription	NH-A	brain
4	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
5	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
6	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
7	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
10	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:65415400-65428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:65415400-65432400	Weak transcription	Ovary	ovary
13	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
14	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
15	chr14:65415800-65427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:65415800-65427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:65418200-65428200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:65418800-65429400	Weak transcription	Fetal Intestine Large	intestine
23	chr14:65419000-65427800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:65419000-65430400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:65419000-65432600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:65419000-65433400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:65419200-65427800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:65419200-65433400	Weak transcription	Lung	lung
31	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:65420600-65430000	Weak transcription	GM12878-XiMat	blood
36	chr14:65420800-65430200	Weak transcription	Brain Anterior Caudate	brain
37	chr14:65420800-65437400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:65422000-65428400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:65422800-65437600	Weak transcription	Spleen	Spleen
40	chr14:65423400-65436800	Weak transcription	Dnd41	blood
41	chr14:65424000-65428400	Enhancers	Esophagus	oesophagus
42	chr14:65424000-65436800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:65424600-65429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:65426000-65438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:65426400-65428400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:65426600-65428000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:65426600-65428000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:65426600-65428000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:65426600-65428000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:65426600-65428400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links