Variant report

Variant	rs45454295
Chromosome Location	chr14:65419293-65419294
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	POLR2A	chr14:65419289-65420054	GM12892	blood:	n/a	n/a
2	NFIC	chr14:65419171-65419871	GM12878	blood:	n/a	n/a
3	EBF1	chr14:65419255-65419846	GM12878	blood:	n/a	chr14:65419512-65419523
4	PML	chr14:65419255-65419899	GM12878	blood:	n/a	n/a
5	RUNX3	chr14:65419218-65420057	GM12878	blood:	n/a	n/a
6	RELA	chr14:65419185-65420077	GM18951	blood:	n/a	chr14:65419469-65419478 chr14:65419469-65419478
7	MTA3	chr14:65419146-65419668	GM12878	blood:	n/a	n/a
8	ATF2	chr14:65419219-65419680	GM12878	blood:	n/a	n/a
9	RUNX3	chr14:65419255-65420027	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65415735..65418064-chr14:65418807..65421614,2	MCF-7	breast:
2	chr14:65409449..65411345-chr14:65418260..65421533,3	MCF-7	breast:
3	chr14:65381002..65382739-chr14:65418604..65420355,2	MCF-7	breast:
4	chr14:65409026..65413439-chr14:65416032..65420633,4	MCF-7	breast:

Variant related genes	Relation type
RAB15	TF binding region
ENSG00000139998	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000176153	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10136196	0.86[EUR][1000 genomes]
rs10145845	0.88[EUR][1000 genomes]
rs1064108	0.88[EUR][1000 genomes]
rs11540873	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623886	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12878229	0.84[EUR][1000 genomes]
rs12879744	0.85[EUR][1000 genomes]
rs12891652	0.85[EUR][1000 genomes]
rs1951993	0.88[EUR][1000 genomes]
rs1957423	0.82[EUR][1000 genomes]
rs2071566	0.88[EUR][1000 genomes]
rs2147612	0.88[EUR][1000 genomes]
rs2147616	0.86[EUR][1000 genomes]
rs2277501	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2296326	0.81[ASN][1000 genomes]
rs2737844	0.88[EUR][1000 genomes]
rs2898874	0.88[EUR][1000 genomes]
rs34852276	0.86[AMR][1000 genomes]
rs34969442	0.84[EUR][1000 genomes]
rs3759681	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4243629	0.88[EUR][1000 genomes]
rs4899155	0.80[AMR][1000 genomes]
rs4902334	0.86[EUR][1000 genomes]
rs4902339	0.88[EUR][1000 genomes]
rs7143358	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs743263	0.81[EUR][1000 genomes]
rs8003530	0.82[EUR][1000 genomes]
rs8016174	0.85[EUR][1000 genomes]

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs45454295	CHURC1	cis	multi-tissue	Pritchard
rs45454295	CHURC1	cis	Thyroid	GTEx
rs45454295	CHURC1	cis	lung	GTEx
rs45454295	CHURC1	cis	Artery Tibial	GTEx
rs45454295	CHURC1	cis	Muscle Skeletal	GTEx
rs45454295	CHURC1	cis	Whole Blood	GTEx
rs45454295	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs45454295	CHURC1	cis	Artery Aorta	GTEx
rs45454295	CHURC1	cis	Adipose Subcutaneous	GTEx
rs45454295	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs45454295	CHURC1	cis	Heart Left Ventricle	GTEx
rs45454295	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs45454295	CHURC1	cis	Esophagus Mucosa	GTEx
rs45454295	CHURC1	cis	Esophagus Muscularis	GTEx
rs45454295	CHURC1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
2	chr14:65383000-65419400	Weak transcription	K562	blood
3	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:65399000-65428000	Weak transcription	NHLF	lung
5	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
6	chr14:65401600-65435000	Weak transcription	NH-A	brain
7	chr14:65404400-65419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:65404600-65419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
10	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
11	chr14:65410200-65425200	Weak transcription	HMEC	breast
12	chr14:65410400-65425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:65410600-65421600	Weak transcription	Pancreas	Pancrea
14	chr14:65411000-65423200	Weak transcription	NHEK	skin
15	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
16	chr14:65411200-65425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:65411200-65427600	Weak transcription	A549	lung
18	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:65411400-65421400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:65411400-65425200	Weak transcription	Stomach Mucosa	stomach
21	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
23	chr14:65411600-65419400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:65412200-65419400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:65412200-65420000	Strong transcription	Placenta	Placenta
26	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
27	chr14:65413000-65426200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:65413200-65419600	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:65413400-65419800	Strong transcription	HSMMtube	muscle
30	chr14:65413600-65419800	Strong transcription	Fetal Brain Female	brain
31	chr14:65413600-65420400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:65413600-65420600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:65413600-65421400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:65413600-65423400	Strong transcription	Thymus	Thymus
35	chr14:65414200-65422800	Strong transcription	Spleen	Spleen
36	chr14:65414400-65419400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:65414800-65424000	Weak transcription	HSMM	muscle
38	chr14:65414800-65425200	Strong transcription	Primary T cells from cord blood	blood
39	chr14:65415200-65419400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:65415400-65420800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:65415400-65428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:65415400-65432400	Weak transcription	Ovary	ovary
43	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
44	chr14:65415600-65419400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:65415600-65427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
47	chr14:65415800-65422000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:65415800-65427200	Strong transcription	Fetal Intestine Small	intestine
49	chr14:65415800-65427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:65415800-65427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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