Variant report

Variant	rs11065564
Chromosome Location	chr12:121852130-121852131
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121836218..121840549-chr12:121849089..121854656,6	K562	blood:
2	chr12:121838349..121841070-chr12:121851218..121853535,3	MCF-7	breast:
3	chr12:121836218..121840549-chr12:121850932..121854656,4	K562	blood:
4	chr12:121844060..121846748-chr12:121851196..121853703,2	K562	blood:
5	chr12:121851621..121854706-chr12:121854783..121857476,4	K562	blood:
6	chr12:121837903..121839570-chr12:121851550..121853367,2	MCF-7	breast:
7	chr12:121850985..121853470-chr12:121904164..121905711,2	MCF-7	breast:
8	chr12:121851621..121853222-chr12:121854783..121857476,2	K562	blood:
9	chr12:121825870..121828286-chr12:121850863..121853508,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10444490	0.83[YRI][hapmap]
rs10849886	0.90[YRI][hapmap]
rs1138515	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs11829166	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830307	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831204	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11832924	1.00[ASW][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11833355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099579	0.98[EUR][1000 genomes]
rs12300459	0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs13754	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs15876	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2293462	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs2293463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751134	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3763973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640009	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs55871623	0.93[EUR][1000 genomes]
rs55997636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55999842	0.95[EUR][1000 genomes]
rs56040349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56174403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56196633	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57206363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57636873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57703781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57917604	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57944841	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58290222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58583717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59199848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59558352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59645029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59697780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59966462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60270456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60582822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60801024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61697335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295066	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311543	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316418	0.83[YRI][hapmap]
rs7954896	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961001	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967850	0.95[EUR][1000 genomes]
rs7974072	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8462	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11065564	GCN1L1	cis	cerebellum	SCAN
rs11065564	FBXL10	Cis_1M	lymphoblastoid	RTeQTL
rs11065564	RNF10	cis	cerebellum	SCAN
rs11065564	NOS1	cis	parietal	SCAN
rs11065564	HNF1A	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121838800-121852600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:121839000-121852600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121839000-121853800	Weak transcription	Ovary	ovary
4	chr12:121839000-121854800	Weak transcription	Gastric	stomach
5	chr12:121839000-121855200	Weak transcription	Fetal Brain Male	brain
6	chr12:121839000-121855400	Weak transcription	Aorta	Aorta
7	chr12:121839000-121855400	Weak transcription	Esophagus	oesophagus
8	chr12:121839000-121855400	Weak transcription	Pancreas	Pancrea
9	chr12:121839000-121855400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:121839000-121861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:121839000-121866400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:121839000-121866400	Weak transcription	Small Intestine	intestine
13	chr12:121839200-121854800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:121839200-121855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:121839200-121855400	Weak transcription	Right Ventricle	heart
16	chr12:121839200-121855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:121839200-121856800	Weak transcription	HSMMtube	muscle
18	chr12:121839200-121860800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:121839600-121854800	Weak transcription	Stomach Mucosa	stomach
20	chr12:121839800-121855200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:121840000-121855200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:121840600-121855000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:121840800-121852600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:121841400-121874600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121843000-121854800	Weak transcription	HUVEC	blood vessel
26	chr12:121843200-121852400	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:121843200-121853200	Weak transcription	HepG2	liver
28	chr12:121843200-121853800	Weak transcription	Brain Anterior Caudate	brain
29	chr12:121843200-121855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:121843400-121855200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:121843400-121855400	Weak transcription	Spleen	Spleen
32	chr12:121843600-121853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:121843600-121853800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:121843600-121854800	Weak transcription	NHLF	lung
35	chr12:121844200-121853800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:121844400-121853600	Weak transcription	Adipose Nuclei	Adipose
37	chr12:121844400-121854800	Weak transcription	Fetal Kidney	kidney
38	chr12:121844600-121852200	Weak transcription	Liver	Liver
39	chr12:121844600-121852400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:121844600-121853800	Weak transcription	Brain Substantia Nigra	brain
41	chr12:121844600-121854000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:121844600-121855600	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:121844800-121852600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:121845000-121852600	Weak transcription	Psoas Muscle	Psoas
45	chr12:121845000-121855400	Weak transcription	Colonic Mucosa	Colon
46	chr12:121845200-121854000	Weak transcription	Fetal Lung	lung
47	chr12:121845400-121852200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:121845400-121853600	Weak transcription	HSMM	muscle
49	chr12:121845400-121853800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:121845400-121853800	Weak transcription	Brain Germinal Matrix	brain

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