Variant report

Variant	rs1886506
Chromosome Location	chr14:65415366-65415367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65380997..65384717-chr14:65414191..65417570,3	MCF-7	breast:
2	chr14:65409377..65412312-chr14:65414249..65416827,3	K562	blood:
3	chr14:65384161..65387036-chr14:65415035..65417512,2	MCF-7	breast:
4	chr14:65408459..65411716-chr14:65412606..65416966,4	MCF-7	breast:
5	chr14:65409377..65412312-chr14:65414249..65416590,2	K562	blood:

Variant related genes	Relation type
ENSG00000176153	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1012376	1.00[ASW][hapmap]
rs10132858	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs10133054	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs10133290	0.80[EUR][1000 genomes]
rs10149617	0.81[EUR][1000 genomes]
rs11621450	0.80[CEU][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11621527	0.87[ASN][1000 genomes]
rs11622077	0.87[ASN][1000 genomes]
rs11622366	1.00[ASW][hapmap]
rs11623597	1.00[ASW][hapmap]
rs11623705	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs11624878	0.89[ASN][1000 genomes]
rs11625722	0.89[ASN][1000 genomes]
rs11626557	0.87[ASN][1000 genomes]
rs11629410	0.87[ASN][1000 genomes]
rs12172810	0.81[EUR][1000 genomes]
rs17752452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17767942	0.93[ASN][1000 genomes]
rs17767960	0.80[CEU][hapmap];0.86[CHB][hapmap];0.93[ASN][1000 genomes]
rs17880303	0.93[ASN][1000 genomes]
rs17880380	0.81[EUR][1000 genomes]
rs17880939	0.96[ASN][1000 genomes]
rs17881498	0.81[EUR][1000 genomes]
rs17882875	0.89[ASN][1000 genomes]
rs17883358	0.93[ASN][1000 genomes]
rs2277502	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2412065	0.81[EUR][1000 genomes]
rs3742599	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899156	0.80[CEU][hapmap]
rs4902331	0.93[ASN][1000 genomes]
rs4902345	0.80[EUR][1000 genomes]
rs4902346	0.81[EUR][1000 genomes]
rs4902347	0.96[ASN][1000 genomes]
rs4902348	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4902349	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4902350	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4902351	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs60796816	0.89[ASN][1000 genomes]
rs7143764	0.83[CEU][hapmap]
rs72726275	0.87[ASN][1000 genomes]
rs72726294	0.93[ASN][1000 genomes]
rs72726300	0.89[ASN][1000 genomes]
rs72726301	0.89[ASN][1000 genomes]
rs72728209	0.96[ASN][1000 genomes]

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs1886506	CHURC1	cis	Frontal Cortex	GTEx
rs1886506	CHURC1	cis	lesional skin	skin_eQTL
rs1886506	CHURC1	cis	parietal	SCAN
rs1886506	CHURC1	cis	Cerebellum	GTEx
rs1886506	CHURC1	cis	lung	GTEx
rs1886506	CHURC1	cis	Temporal Cortex	GTEx
rs1886506	CHURC1	cis	lymphoblastoid	seeQTL
rs1886506	CHURC1	cis	Muscle Skeletal	GTEx
rs1886506	CHURC1	cis	Heart Left Ventricle	GTEx
rs1886506	CHURC1	cis	cerebellum	SCAN
rs1886506	CHURC1	cis	normal skin	skin_eQTL
rs1886506	CHURC1	cis	Whole Blood	GTEx
rs1886506	CHURC1	cis	Brain Pons	GTEx
rs1886506	RAB15	cis	cerebellum	SCAN
rs1886506	CHURC1	cis	Artery Tibial	GTEx
rs1886506	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs1886506	CHURC1	cis	uninvolved skin	skin_eQTL
rs1886506	C14orf52	cis	multi-tissue	Pritchard
rs1886506	CHURC1	cis	multi-tissue	Pritchard
rs1886506	CHURC1	cis	Thyroid	GTEx
rs1886506	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382400-65417400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
3	chr14:65383000-65419400	Weak transcription	K562	blood
4	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:65396000-65417800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:65399000-65428000	Weak transcription	NHLF	lung
7	chr14:65400000-65417000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
9	chr14:65401600-65435000	Weak transcription	NH-A	brain
10	chr14:65404400-65416600	Weak transcription	Psoas Muscle	Psoas
11	chr14:65404400-65419600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:65404600-65415600	Weak transcription	Fetal Heart	heart
13	chr14:65404600-65418200	Weak transcription	Brain Angular Gyrus	brain
14	chr14:65404600-65419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:65405000-65417200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:65405800-65416200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:65406400-65415600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
19	chr14:65407800-65417400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:65408400-65415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:65409200-65416000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
23	chr14:65410000-65417000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:65410000-65418200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:65410200-65425200	Weak transcription	HMEC	breast
26	chr14:65410400-65415400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:65410400-65418200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:65410400-65419200	Strong transcription	Lung	lung
29	chr14:65410400-65425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:65410600-65421600	Weak transcription	Pancreas	Pancrea
31	chr14:65411000-65417600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:65411000-65423200	Weak transcription	NHEK	skin
33	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
34	chr14:65411200-65425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:65411200-65427600	Weak transcription	A549	lung
36	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:65411400-65418600	Weak transcription	GM12878-XiMat	blood
38	chr14:65411400-65421400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:65411400-65425200	Weak transcription	Stomach Mucosa	stomach
40	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
42	chr14:65411600-65419400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:65412200-65416000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr14:65412200-65419400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:65412200-65420000	Strong transcription	Placenta	Placenta
46	chr14:65412400-65419200	Strong transcription	Brain Germinal Matrix	brain
47	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
48	chr14:65412600-65418800	Strong transcription	Dnd41	blood
49	chr14:65412800-65416000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr14:65412800-65418000	Strong transcription	Fetal Muscle Trunk	muscle

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