Variant report

Variant	rs72728213
Chromosome Location	chr14:65425458-65425459
allele	G/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	NR3C1	chr14:65425409-65425832	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
2	chr14:65407129..65411344-chr14:65424634..65427852,4	MCF-7	breast:

Variant related genes	Relation type
RAB15	TF binding region
ENSG00000176153	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	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	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11621527	0.90[EUR][1000 genomes]
rs11622077	0.91[EUR][1000 genomes]
rs11623705	0.95[EUR][1000 genomes]
rs11624878	0.92[EUR][1000 genomes]
rs11625722	0.92[EUR][1000 genomes]
rs11626557	0.90[EUR][1000 genomes]
rs11629410	0.90[EUR][1000 genomes]
rs17752452	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17767942	0.92[EUR][1000 genomes]
rs17767960	0.92[EUR][1000 genomes]
rs17880303	0.95[EUR][1000 genomes]
rs17880939	0.96[EUR][1000 genomes]
rs17882875	0.96[EUR][1000 genomes]
rs17883358	0.94[EUR][1000 genomes]
rs2277502	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899156	0.94[EUR][1000 genomes]
rs4902331	0.92[EUR][1000 genomes]
rs4902347	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4902348	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4902349	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4902350	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902351	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60796816	0.92[EUR][1000 genomes]
rs7145282	0.87[EUR][1000 genomes]
rs72726275	0.91[EUR][1000 genomes]
rs72726283	0.86[EUR][1000 genomes]
rs72726294	0.92[EUR][1000 genomes]
rs72726300	0.92[EUR][1000 genomes]
rs72726301	0.92[EUR][1000 genomes]
rs72728209	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72728215	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
rs72728213	CHURC1	cis	Artery Tibial	GTEx
rs72728213	CHURC1	cis	Heart Left Ventricle	GTEx
rs72728213	CHURC1	cis	Muscle Skeletal	GTEx
rs72728213	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs72728213	CHURC1	cis	lung	GTEx
rs72728213	CHURC1	cis	Thyroid	GTEx
rs72728213	CHURC1	cis	Whole Blood	GTEx
rs72728213	CHURC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:101 , 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	chr14:65411200-65427600	Weak transcription	A549	lung
8	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
11	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:65413000-65426200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:65415400-65428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65415400-65432400	Weak transcription	Ovary	ovary
15	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
16	chr14:65415600-65427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
18	chr14:65415800-65427200	Strong transcription	Fetal Intestine Small	intestine
19	chr14:65415800-65427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:65415800-65427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:65416000-65425600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:65416000-65427400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:65417400-65426200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:65417400-65426600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
26	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:65418000-65426600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:65418200-65428200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:65418400-65427400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:65418800-65426600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:65418800-65429400	Weak transcription	Fetal Intestine Large	intestine
34	chr14:65419000-65427800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:65419000-65430400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:65419000-65432600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:65419000-65433400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:65419200-65427600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:65419200-65427600	Weak transcription	Brain Germinal Matrix	brain
42	chr14:65419200-65427600	Weak transcription	Right Ventricle	heart
43	chr14:65419200-65427800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:65419200-65433400	Weak transcription	Lung	lung
45	chr14:65419400-65427400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:65419800-65427000	Weak transcription	HSMMtube	muscle
50	chr14:65419800-65427200	Weak transcription	Fetal Heart	heart

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