Variant report

Variant	rs11158569
Chromosome Location	chr14:65400069-65400070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65398098..65401847-chr14:65402918..65405946,5	MCF-7	breast:
2	chr14:65398257..65401732-chr14:65403924..65406897,4	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10129479	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131002	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10132742	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138506	0.86[GIH][hapmap]
rs10138534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139435	0.90[AFR][1000 genomes]
rs10139595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10141986	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142016	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142379	0.92[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144942	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10146885	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10147758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10149617	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151701	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10498518	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs12172810	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590986	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs17102298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17880380	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881498	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951488	0.84[CEU][hapmap];0.96[TSI][hapmap]
rs1957425	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs2147615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412065	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][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]
rs28451373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28508270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3949937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899153	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902336	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67330703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143432	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7143764	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144811	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153503	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743264	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs8943	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8984	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9281	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs11158569	CHURC1	cis	Heart Left Ventricle	GTEx
rs11158569	CHURC1	cis	Muscle Skeletal	GTEx
rs11158569	CHURC1	cis	Artery Tibial	GTEx
rs11158569	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs11158569	RAB15	cis	lymphoblastoid	seeQTL
rs11158569	CHURC1	cis	Whole Blood	GTEx
rs11158569	CHURC1	cis	Artery Aorta	GTEx
rs11158569	CHURC1	cis	Esophagus Muscularis	GTEx
rs11158569	CHURC1	cis	parietal	SCAN
rs11158569	CHURC1	cis	Esophagus Mucosa	GTEx
rs11158569	CHURC1	cis	Brain Pons	GTEx
rs11158569	CHURC1	cis	Temporal Cortex	GTEx
rs11158569	RAB15	cis	cerebellum	SCAN
rs11158569	CHURC1	cis	Cerebellum	GTEx
rs11158569	CHURC1	cis	Nerve Tibial	GTEx
rs11158569	CHURC1	cis	Thyroid	GTEx
rs11158569	CHURC1	cis	Adipose Subcutaneous	GTEx
rs11158569	CHURC1	cis	lung	GTEx
rs11158569	CHURC1	cis	lymphoblastoid	seeQTL
rs11158569	CHURC1	cis	cerebellum	SCAN
rs11158569	CHURC1	cis	multi-tissue	Pritchard
rs11158569	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs11158569	CHURC1	cis	Frontal Cortex	GTEx

Chromatin state (count:124 , 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	chr14:65382800-65404200	Weak transcription	Stomach Mucosa	stomach
6	chr14:65383000-65419400	Weak transcription	K562	blood
7	chr14:65383800-65403800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:65384400-65404800	Weak transcription	Gastric	stomach
9	chr14:65386400-65409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:65390600-65400400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:65390600-65400600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:65390600-65401800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:65390600-65409600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:65390600-65409800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:65390800-65401200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:65390800-65401400	Strong transcription	Placenta	Placenta
17	chr14:65390800-65401600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:65390800-65401800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:65390800-65402400	Strong transcription	Osteobl	bone
20	chr14:65390800-65403200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:65390800-65407000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:65391800-65400600	Strong transcription	A549	lung
23	chr14:65392800-65401600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:65393400-65400800	Weak transcription	Ovary	ovary
25	chr14:65393400-65404000	Weak transcription	Right Ventricle	heart
26	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65393800-65404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:65393800-65409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:65394200-65403600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:65395400-65404600	Weak transcription	Fetal Intestine Small	intestine
31	chr14:65395600-65402600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:65395600-65403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:65395800-65402200	Weak transcription	Psoas Muscle	Psoas
34	chr14:65395800-65402800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:65396000-65400800	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:65396000-65402200	Weak transcription	Brain Angular Gyrus	brain
37	chr14:65396000-65403600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:65396000-65403600	Weak transcription	Brain Substantia Nigra	brain
39	chr14:65396000-65405200	Weak transcription	Fetal Stomach	stomach
40	chr14:65396000-65409600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:65396000-65410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:65396000-65413600	Weak transcription	Fetal Brain Female	brain
43	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:65396200-65401000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:65396200-65401800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:65396200-65404000	Weak transcription	Pancreas	Pancrea
47	chr14:65396200-65405400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:65396200-65405600	Weak transcription	Spleen	Spleen
49	chr14:65396200-65408200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr14:65396600-65402600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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