Variant report

Variant	rs10133290
Chromosome Location	chr14:65404442-65404443
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65371374..65373964-chr14:65403837..65405514,2	MCF-7	breast:
2	chr14:65394304..65397990-chr14:65402248..65406876,4	MCF-7	breast:
3	chr14:65403548..65406237-chr14:65451854..65455052,4	MCF-7	breast:
4	chr14:65398098..65401847-chr14:65402918..65405946,5	MCF-7	breast:
5	chr14:65379688..65381609-chr14:65402993..65405466,2	MCF-7	breast:
6	chr14:65404420..65406975-chr14:65439148..65440994,2	MCF-7	breast:
7	chr14:65289379..65292254-chr14:65404239..65406911,2	MCF-7	breast:
8	chr14:65381011..65382650-chr14:65404072..65406502,2	MCF-7	breast:
9	chr14:65404280..65406861-chr14:65436197..65439029,2	MCF-7	breast:
10	chr14:65404338..65405141-chr14:65450202..65451438,3	MCF-7	breast:
11	chr14:65387204..65389261-chr14:65402444..65405344,2	MCF-7	breast:
12	chr14:65398257..65401732-chr14:65403924..65406897,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000139998	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10129479	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131002	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132396	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132742	0.94[CEU][hapmap];0.93[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]
rs10132858	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139079	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139435	0.88[AFR][1000 genomes]
rs10139595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[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];0.95[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	0.88[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];0.94[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	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[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];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10149617	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[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]
rs12172810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17880380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886506	0.80[EUR][1000 genomes]
rs1951488	0.84[CEU][hapmap]
rs1957425	0.84[CEU][hapmap]
rs2147615	0.96[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];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28451373	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28508270	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742599	0.80[EUR][1000 genomes]
rs3949937	0.96[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];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899153	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[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];0.90[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];0.90[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];0.96[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];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902337	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902338	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902340	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902341	0.96[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];0.95[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902346	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	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745	1.00[CEU][hapmap];0.99[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];0.92[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]
rs7144811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153503	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[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];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[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];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160518	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743264	0.84[CEU][hapmap]
rs8943	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8984	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9281	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs10133290	CHURC1	cis	Frontal Cortex	GTEx
rs10133290	CHURC1	cis	Nerve Tibial	GTEx
rs10133290	CHURC1	cis	Cerebellum	GTEx
rs10133290	CHURC1	cis	uninvolved skin	skin_eQTL
rs10133290	CHURC1	cis	Thyroid	GTEx
rs10133290	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs10133290	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs10133290	CHURC1	cis	normal skin	skin_eQTL
rs10133290	CHURC1	cis	Esophagus Mucosa	GTEx
rs10133290	CHURC1	cis	multi-tissue	Pritchard
rs10133290	CHURC1	cis	Lymphoblastoid	GTEx
rs10133290	CHURC1	cis	Artery Aorta	GTEx
rs10133290	CHURC1	cis	Muscle Skeletal	GTEx
rs10133290	CHURC1	cis	Esophagus Muscularis	GTEx
rs10133290	CHURC1	cis	Temporal Cortex	GTEx
rs10133290	C14orf52	cis	multi-tissue	Pritchard
rs10133290	CHURC1	cis	Adipose Subcutaneous	GTEx
rs10133290	CHURC1	cis	Whole Blood	GTEx
rs10133290	CHURC1	cis	lesional skin	skin_eQTL
rs10133290	GPX2	cis	multi-tissue	Pritchard
rs10133290	CHURC1	cis	Brain Pons	GTEx
rs10133290	CHURC1	cis	lung	GTEx
rs10133290	CHURC1	cis	Heart Left Ventricle	GTEx
rs10133290	CHURC1	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 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	chr14:65384400-65404800	Weak transcription	Gastric	stomach
7	chr14:65386400-65409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:65390600-65409600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:65390600-65409800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:65390800-65407000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:65393800-65404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:65393800-65409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65395400-65404600	Weak transcription	Fetal Intestine Small	intestine
15	chr14:65396000-65405200	Weak transcription	Fetal Stomach	stomach
16	chr14:65396000-65409600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:65396000-65410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:65396000-65413600	Weak transcription	Fetal Brain Female	brain
19	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:65396200-65405400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:65396200-65405600	Weak transcription	Spleen	Spleen
22	chr14:65396200-65408200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:65396600-65406000	Weak transcription	NHDF-Ad	bronchial
24	chr14:65397200-65407200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:65397400-65411200	Strong transcription	Dnd41	blood
26	chr14:65397800-65405800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:65398000-65405200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:65398200-65405400	Weak transcription	Aorta	Aorta
29	chr14:65398200-65405600	Weak transcription	Lung	lung
30	chr14:65398600-65404800	Weak transcription	NHEK	skin
31	chr14:65399000-65428000	Weak transcription	NHLF	lung
32	chr14:65399200-65412400	Weak transcription	Brain Germinal Matrix	brain
33	chr14:65399400-65405600	Weak transcription	Colonic Mucosa	Colon
34	chr14:65400000-65405400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:65400000-65406000	Weak transcription	Esophagus	oesophagus
36	chr14:65400000-65410400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:65400400-65415200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:65400600-65407400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:65400600-65408000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:65400600-65409200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:65400800-65404800	Enhancers	Ovary	ovary
43	chr14:65400800-65404800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:65400800-65408800	Weak transcription	HMEC	breast
45	chr14:65400800-65410200	Weak transcription	Fetal Lung	lung
46	chr14:65401200-65406200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:65401400-65405200	Weak transcription	Placenta	Placenta
48	chr14:65401400-65405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:65401400-65407400	Weak transcription	Small Intestine	intestine
50	chr14:65401400-65409200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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