Variant report

Variant	rs4902346
Chromosome Location	chr14:65407160-65407161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65407129..65411344-chr14:65424634..65427852,4	MCF-7	breast:
2	chr14:65384670..65387392-chr14:65406391..65409044,2	MCF-7	breast:
3	chr14:65380406..65382948-chr14:65406634..65410888,4	MCF-7	breast:
4	chr14:65389378..65392294-chr14:65404948..65407840,2	K562	blood:
5	chr14:65404531..65408586-chr14:65450812..65454369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000139998	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10129479	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131002	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132396	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132742	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137070	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139079	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139435	0.87[AFR][1000 genomes]
rs10139595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10141986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142016	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142379	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10143017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144942	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10146885	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10147758	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10149617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10498518	0.84[CEU][hapmap]
rs11158569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623705	0.85[JPT][hapmap]
rs12172810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590986	0.84[CEU][hapmap]
rs17102298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17880380	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881498	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886506	0.81[EUR][1000 genomes]
rs1951488	0.84[CEU][hapmap]
rs1957425	0.84[CEU][hapmap]
rs2147615	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28451373	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28508270	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742599	0.81[EUR][1000 genomes]
rs3949937	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899153	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902337	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902338	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902340	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902341	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67330703	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7143764	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153503	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160518	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743264	0.84[CEU][hapmap]
rs8943	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8984	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9281	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs4902346	CHURC1	cis	Esophagus Muscularis	GTEx
rs4902346	CHURC1	cis	Thyroid	GTEx
rs4902346	CHURC1	cis	Temporal Cortex	GTEx
rs4902346	CHURC1	cis	Artery Aorta	GTEx
rs4902346	CHURC1	cis	Muscle Skeletal	GTEx
rs4902346	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs4902346	CHURC1	cis	Frontal Cortex	GTEx
rs4902346	CHURC1	cis	lesional skin	skin_eQTL
rs4902346	C14orf52	cis	multi-tissue	Pritchard
rs4902346	CHURC1	cis	Lymphoblastoid	GTEx
rs4902346	CHURC1	cis	Adipose Subcutaneous	GTEx
rs4902346	CHURC1	cis	Heart Left Ventricle	GTEx
rs4902346	CHURC1	cis	normal skin	skin_eQTL
rs4902346	CHURC1	cis	Cerebellum	GTEx
rs4902346	CHURC1	cis	multi-tissue	Pritchard
rs4902346	CHURC1	cis	lung	GTEx
rs4902346	CHURC1	cis	Whole Blood	GTEx
rs4902346	CHURC1	cis	uninvolved skin	skin_eQTL
rs4902346	CHURC1	cis	Brain Pons	GTEx
rs4902346	CHURC1	cis	Nerve Tibial	GTEx
rs4902346	CHURC1	cis	Esophagus Mucosa	GTEx
rs4902346	CHURC1	cis	Artery Tibial	GTEx
rs4902346	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
5	chr14:65383000-65419400	Weak transcription	K562	blood
6	chr14:65386400-65409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:65390600-65409600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:65390600-65409800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:65393800-65409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65396000-65409600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:65396000-65410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:65396000-65413600	Weak transcription	Fetal Brain Female	brain
14	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:65396200-65408200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:65397200-65407200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:65397400-65411200	Strong transcription	Dnd41	blood
18	chr14:65399000-65428000	Weak transcription	NHLF	lung
19	chr14:65399200-65412400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:65400000-65410400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:65400400-65415200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:65400600-65407400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:65400600-65408000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:65400600-65409200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:65400800-65408800	Weak transcription	HMEC	breast
27	chr14:65400800-65410200	Weak transcription	Fetal Lung	lung
28	chr14:65401400-65407400	Weak transcription	Small Intestine	intestine
29	chr14:65401400-65409200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:65401400-65409400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
32	chr14:65401600-65412400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:65401600-65413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:65401600-65435000	Weak transcription	NH-A	brain
35	chr14:65401800-65409400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:65401800-65412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:65402400-65415000	Weak transcription	Osteobl	bone
38	chr14:65402600-65408600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:65402600-65410200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:65403000-65412800	Strong transcription	Thymus	Thymus
41	chr14:65403400-65408400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:65403400-65414600	Weak transcription	Left Ventricle	heart
43	chr14:65403800-65407400	Enhancers	Fetal Intestine Large	intestine
44	chr14:65404000-65407800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:65404000-65408600	Strong transcription	Primary B cells from cord blood	blood
46	chr14:65404000-65409600	Strong transcription	Primary T cells from cord blood	blood
47	chr14:65404000-65410600	Enhancers	Pancreas	Pancrea
48	chr14:65404000-65412200	Strong transcription	Fetal Thymus	thymus
49	chr14:65404200-65407600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:65404400-65407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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