Variant report

Variant	rs10132686
Chromosome Location	chr14:65437937-65437938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65435373..65439522-chr14:65449572..65455038,8	MCF-7	breast:
2	chr14:65408375..65411114-chr14:65437552..65439159,4	MCF-7	breast:
3	chr14:65422596..65425109-chr14:65437838..65439509,2	MCF-7	breast:
4	chr14:65380105..65382840-chr14:65437077..65439744,4	MCF-7	breast:
5	chr14:65381042..65382655-chr14:65437640..65439751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176153	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000257365	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11623866	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4499147	0.92[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs4902355	0.84[TSI][hapmap]
rs61160081	0.87[ASN][1000 genomes]
rs7160073	0.81[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv11173	chr14:65432340-65438052	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10132686	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs10132686	MAX	cis	cerebellum	SCAN
rs10132686	CHURC1	cis	cerebellum	SCAN
rs10132686	CHURC1	cis	parietal	SCAN
rs10132686	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs10132686	FNTB	cis	cerebellum	SCAN
rs10132686	RAB15	cis	cerebellum	SCAN
rs10132686	CHURC1	cis	Whole Blood	GTEx
rs10132686	CHURC1	cis	Thyroid	GTEx
rs10132686	CHURC1	cis	Artery Tibial	GTEx
rs10132686	CHURC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
2	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
3	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
5	chr14:65426000-65438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:65434000-65438000	Weak transcription	Gastric	stomach
7	chr14:65435000-65438000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:65435200-65438000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:65435400-65438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:65436400-65438200	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:65436400-65438200	Enhancers	Fetal Heart	heart
12	chr14:65436800-65438000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:65436800-65438000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr14:65436800-65438200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:65437000-65438000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:65437000-65438000	Enhancers	Right Atrium	heart
17	chr14:65437000-65438000	Enhancers	Thymus	Thymus
18	chr14:65437000-65438000	Enhancers	HepG2	liver
19	chr14:65437000-65438200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:65437000-65438200	Enhancers	Left Ventricle	heart
21	chr14:65437200-65438000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:65437200-65438000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:65437200-65438000	Enhancers	Primary T cells from cord blood	blood
24	chr14:65437200-65438000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:65437200-65438200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr14:65437200-65438200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:65437200-65438400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr14:65437200-65438400	Flanking Active TSS	HSMM	muscle
29	chr14:65437400-65438000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:65437400-65438000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr14:65437400-65438000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr14:65437400-65438000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:65437400-65438000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65437400-65438000	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:65437400-65438000	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr14:65437400-65438000	Enhancers	HUVEC	blood vessel
37	chr14:65437400-65438200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:65437400-65438200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr14:65437400-65438200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:65437400-65438200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:65437400-65438200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:65437400-65438200	Flanking Active TSS	Fetal Brain Female	brain
43	chr14:65437400-65439600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:65437600-65438000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:65437600-65438000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:65437600-65438000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr14:65437600-65438000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:65437600-65438000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:65437600-65438000	Enhancers	Liver	Liver
50	chr14:65437600-65438000	Flanking Active TSS	Brain Angular Gyrus	brain

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