Variant report

Variant	rs28508270
Chromosome Location	chr14:65383555-65383556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65379566..65382757-chr14:65383484..65387086,7	MCF-7	breast:
2	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
3	chr14:65376372..65378588-chr14:65381042..65383849,2	K562	blood:
4	chr14:65380332..65384001-chr14:65388831..65392561,3	K562	blood:
5	chr14:65379731..65383710-chr14:65424558..65427647,5	MCF-7	breast:
6	chr14:65382279..65385178-chr14:65385744..65388338,3	K562	blood:
7	chr14:65380579..65384480-chr14:65390113..65394782,6	MCF-7	breast:
8	chr14:65376789..65378335-chr14:65383134..65384665,2	MCF-7	breast:
9	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:
10	chr14:65133710..65135609-chr14:65381546..65383750,2	MCF-7	breast:
11	chr14:65381530..65387972-chr14:65390181..65394582,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258289	Chromatin interaction
ENSG00000252497	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000125954	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 24 )

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

rs_ID	r²[population]
rs10129479	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131002	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132858	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133054	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133290	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138534	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139435	0.92[AFR][1000 genomes]
rs10139595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141986	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142016	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142379	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144942	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146885	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10147758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149617	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151701	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12172810	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17102298	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17880380	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17881498	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412065	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28451373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3949937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899153	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902333	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902345	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902346	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67330703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144811	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154406	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160518	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8943	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8984	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9281	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs28508270	CHURC1,FNTB,LOC100289314	cis	intralobular white matter	BrainEAC
rs28508270	CHURC1	cis	Whole Blood	GTEx
rs28508270	CHURC1	cis	lung	GTEx
rs28508270	CHURC1,FNTB,LOC100289314	cis	brain	BrainEAC
rs28508270	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs28508270	CHURC1,FNTB,LOC100289314	cis	cerebellar cortex	BrainEAC
rs28508270	CHURC1,FNTB,LOC100289314	cis	substantia nigra	BrainEAC
rs28508270	CHURC1,FNTB,LOC100289314	cis	frontal cortex	BrainEAC
rs28508270	CHURC1	cis	Heart Left Ventricle	GTEx
rs28508270	CHURC1,FNTB,LOC100289314	cis	occipital cortex	BrainEAC
rs28508270	CHURC1,FNTB,LOC100289314	cis	putamen	BrainEAC
rs28508270	CHURC1	cis	Artery Aorta	GTEx
rs28508270	CHURC1,FNTB,LOC100289314	cis	thalamus	BrainEAC
rs28508270	CHURC1	cis	Esophagus Muscularis	GTEx
rs28508270	CHURC1,FNTB,LOC100289314	cis	temporal cortex	BrainEAC
rs28508270	CHURC1	cis	Adipose Subcutaneous	GTEx
rs28508270	CHURC1,FNTB,LOC100289314	cis	inferior olivary nucleus	BrainEAC
rs28508270	CHURC1	cis	Nerve Tibial	GTEx
rs28508270	CHURC1	cis	Muscle Skeletal	GTEx
rs28508270	CHURC1	cis	Esophagus Mucosa	GTEx
rs28508270	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs28508270	CHURC1	cis	Artery Tibial	GTEx
rs28508270	CHURC1,FNTB,LOC100289314	cis	hippocampus	BrainEAC
rs28508270	CHURC1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65381800-65386000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65382000-65384000	Enhancers	Spleen	Spleen
3	chr14:65382000-65384200	Weak transcription	Gastric	stomach
4	chr14:65382000-65385200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:65382000-65386400	Weak transcription	Aorta	Aorta
6	chr14:65382000-65399200	Weak transcription	Esophagus	oesophagus
7	chr14:65382000-65409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:65382200-65383800	Weak transcription	Left Ventricle	heart
9	chr14:65382200-65384400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:65382200-65385200	Weak transcription	Lung	lung
11	chr14:65382200-65386800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:65382200-65390800	Weak transcription	Placenta	Placenta
13	chr14:65382200-65391200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:65382200-65391600	Weak transcription	Ovary	ovary
15	chr14:65382200-65394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:65382200-65395600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:65382400-65384400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr14:65382400-65384400	Weak transcription	HSMMtube	muscle
19	chr14:65382400-65384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:65382400-65386400	Weak transcription	Right Atrium	heart
21	chr14:65382400-65387800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:65382400-65388400	Weak transcription	Fetal Thymus	thymus
23	chr14:65382400-65390600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:65382400-65390600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:65382400-65390600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:65382400-65390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:65382400-65390600	Weak transcription	Fetal Intestine Large	intestine
28	chr14:65382400-65390800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:65382400-65390800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65382400-65391000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:65382400-65391200	Weak transcription	Fetal Brain Female	brain
32	chr14:65382400-65391400	Weak transcription	Colonic Mucosa	Colon
33	chr14:65382400-65391600	Weak transcription	Fetal Stomach	stomach
34	chr14:65382400-65394000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:65382400-65409200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
38	chr14:65382600-65384600	Weak transcription	Fetal Heart	heart
39	chr14:65382600-65391200	Weak transcription	Fetal Kidney	kidney
40	chr14:65382800-65383800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr14:65382800-65383800	Weak transcription	Pancreas	Pancrea
42	chr14:65382800-65384000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:65382800-65384600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:65382800-65385000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:65382800-65385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:65382800-65385200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:65382800-65385600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:65382800-65386200	Weak transcription	Psoas Muscle	Psoas
49	chr14:65382800-65387400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:65382800-65390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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