Variant report

Variant	rs12575252
Chromosome Location	chr11:8694073-8694074
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8693907..8695992-chr11:8931800..8933882,2	MCF-7	breast:
2	chr11:8690506..8692188-chr11:8693697..8695262,2	K562	blood:

Variant related genes	Relation type
ENSG00000166452	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10128597	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10769931	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769932	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769936	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10769938	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10769939	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840100	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840102	1.00[ASN][1000 genomes]
rs10840104	1.00[ASN][1000 genomes]
rs11041978	0.84[MEX][hapmap]
rs11042016	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042017	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042023	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042025	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11042029	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11042030	1.00[ASN][1000 genomes]
rs11517718	0.95[AFR][1000 genomes]
rs12271470	0.99[ASN][1000 genomes]
rs12803166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1502317	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2028882	0.84[MEX][hapmap]
rs2316901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34867877	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35319120	0.98[ASN][1000 genomes]
rs36092927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4256980	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4272783	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4291677	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4495896	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4503528	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4929923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4929924	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4929925	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929926	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4929927	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4929928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929942	0.84[MEX][hapmap]
rs4929943	0.84[MEX][hapmap]
rs4929947	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4929948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486253	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110529	0.94[ASN][1000 genomes]
rs7113874	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][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]
rs7118611	1.00[ASN][1000 genomes]
rs7126235	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725502	0.84[MEX][hapmap]
rs7939673	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7939731	0.84[MEX][hapmap]
rs7941510	1.00[ASN][1000 genomes]
rs7945659	0.91[MEX][hapmap]
rs7950166	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7950528	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs885114	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9300092	0.84[MEX][hapmap]
rs9736791	0.84[MEX][hapmap]

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs12575252	RPL27A	cis	parietal	SCAN
rs12575252	OR51V1	cis	cerebellum	SCAN
rs12575252	STK33	cis	cerebellum	SCAN
rs12575252	PKD1L2	trans	cerebellum	SCAN
rs12575252	OR52E2	cis	parietal	SCAN
rs12575252	SNORA45	cis	parietal	SCAN
rs12575252	ST5	cis	cerebellum	SCAN
rs12575252	OR10A4	cis	parietal	SCAN
rs12575252	OR56B4	cis	parietal	SCAN
rs12575252	CNGA4	cis	cerebellum	SCAN
rs12575252	RPL27A	cis	cerebellum	SCAN
rs12575252	TRIM66	cis	Whole Blood	GTEx
rs12575252	IPO7	cis	cerebellum	SCAN
rs12575252	SNORA45	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8637000-8703200	Weak transcription	Small Intestine	intestine
2	chr11:8664200-8700400	Weak transcription	Stomach Mucosa	stomach
3	chr11:8684000-8701600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:8684400-8701400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:8689400-8696000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:8689800-8694200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr11:8690000-8703000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:8690400-8694200	Strong transcription	Primary T cells from cord blood	blood
9	chr11:8690400-8694200	Strong transcription	Dnd41	blood
10	chr11:8690400-8694600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:8690400-8701200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:8691200-8694200	Enhancers	HMEC	breast
13	chr11:8691200-8696400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:8691600-8694400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:8691800-8694200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:8691800-8694200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:8691800-8695800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:8692000-8696000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:8692400-8694200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:8692400-8694200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:8692400-8694200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:8692400-8694200	Strong transcription	GM12878-XiMat	blood
23	chr11:8692400-8694200	Enhancers	HSMMtube	muscle
24	chr11:8692600-8694200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:8692800-8694400	Enhancers	Left Ventricle	heart
26	chr11:8693200-8694200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:8693200-8694200	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr11:8693400-8694200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:8693400-8694200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:8693600-8694200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:8693600-8694200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:8693600-8694200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:8693600-8694200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:8693600-8694200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:8693600-8694200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:8693600-8694200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:8693600-8694200	Enhancers	HUVEC	blood vessel
38	chr11:8693600-8694200	Enhancers	NHLF	lung
39	chr11:8693600-8694400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:8693600-8694600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:8693600-8695800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:8693600-8700200	Weak transcription	HepG2	liver
43	chr11:8693600-8703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:8693600-8703200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:8693600-8703200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:8693600-8703200	Weak transcription	Fetal Lung	lung
47	chr11:8693600-8703400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:8693600-8703400	Weak transcription	Ovary	ovary
49	chr11:8693800-8694200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:8693800-8694600	Weak transcription	Psoas Muscle	Psoas

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