Variant report

Variant	rs4902340
Chromosome Location	chr14:65395381-65395382
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65379584..65383779-chr14:65391377..65398715,8	MCF-7	breast:
2	chr14:65394304..65397990-chr14:65402248..65406876,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129479	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10131002	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10132396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10132742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10132858	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133054	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10133290	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10137070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10139079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10139435	0.93[AFR][1000 genomes]
rs10139595	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142016	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142379	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10143017	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144942	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10146885	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10149617	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12172810	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102298	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17880380	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17881498	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2147615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412065	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28451373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28508270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3949937	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899153	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902345	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902346	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67330703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144811	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8943	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8984	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9281	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4902340	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs4902340	CHURC1	cis	Muscle Skeletal	GTEx
rs4902340	CHURC1	cis	Whole Blood	GTEx
rs4902340	CHURC1	cis	multi-tissue	Pritchard
rs4902340	CHURC1	cis	Artery Tibial	GTEx
rs4902340	CHURC1	cis	Esophagus Mucosa	GTEx
rs4902340	CHURC1	cis	Esophagus Muscularis	GTEx
rs4902340	CHURC1	cis	Heart Left Ventricle	GTEx
rs4902340	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs4902340	CHURC1	cis	lung	GTEx
rs4902340	CHURC1	cis	Artery Aorta	GTEx
rs4902340	CHURC1	cis	Adipose Subcutaneous	GTEx
rs4902340	CHURC1	cis	Nerve Tibial	GTEx
rs4902340	CHURC1	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382000-65399200	Weak transcription	Esophagus	oesophagus
2	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:65382200-65395600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
7	chr14:65382800-65404200	Weak transcription	Stomach Mucosa	stomach
8	chr14:65383000-65419400	Weak transcription	K562	blood
9	chr14:65383800-65403800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:65384400-65404800	Weak transcription	Gastric	stomach
11	chr14:65385600-65395800	Weak transcription	Pancreas	Pancrea
12	chr14:65386400-65409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:65387400-65395800	Weak transcription	Aorta	Aorta
14	chr14:65390000-65396400	Strong transcription	HSMM	muscle
15	chr14:65390200-65399200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:65390400-65396200	Strong transcription	Liver	Liver
17	chr14:65390400-65398000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:65390600-65395800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:65390600-65396000	Strong transcription	Brain Anterior Caudate	brain
20	chr14:65390600-65396200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:65390600-65396200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:65390600-65396200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:65390600-65396200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:65390600-65396400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:65390600-65396600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:65390600-65396600	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:65390600-65397200	Strong transcription	Fetal Intestine Large	intestine
28	chr14:65390600-65398000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:65390600-65400400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:65390600-65400600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:65390600-65401800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:65390600-65409600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:65390600-65409800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:65390800-65395400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:65390800-65395600	Strong transcription	Colon Smooth Muscle	Colon
36	chr14:65390800-65396000	Strong transcription	Brain Angular Gyrus	brain
37	chr14:65390800-65396000	Strong transcription	Hela-S3	cervix
38	chr14:65390800-65396200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:65390800-65396200	Strong transcription	Adipose Nuclei	Adipose
40	chr14:65390800-65396200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr14:65390800-65401200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:65390800-65401400	Strong transcription	Placenta	Placenta
43	chr14:65390800-65401600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:65390800-65401800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:65390800-65402400	Strong transcription	Osteobl	bone
46	chr14:65390800-65403200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:65390800-65407000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:65391200-65396000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr14:65391200-65396000	Strong transcription	HMEC	breast
50	chr14:65391200-65396200	Strong transcription	Fetal Lung	lung

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