Variant report

Variant	rs3751134
Chromosome Location	chr12:121858212-121858213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121835704..121841982-chr12:121855433..121861253,10	K562	blood:

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]
rs11065564	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]
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];0.96[ASN][1000 genomes]
rs11830307	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11831204	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11831315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11832889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.93[ASN][1000 genomes]
rs11833355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11837988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];1.00[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];0.96[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];0.96[ASN][1000 genomes]
rs28557279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28682461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];0.96[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];0.93[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];0.93[ASN][1000 genomes]
rs56174403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56196633	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56294627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57206363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57636873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57703781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57917604	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57944841	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58290222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58583717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59199848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59558352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59645029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59697780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59966462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60270456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60582822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60801024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61697335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295066	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.96[ASN][1000 genomes]
rs7316418	0.83[YRI][hapmap]
rs7954896	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7960820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7961001	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[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];0.96[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3751134	NOS1	cis	parietal	SCAN
rs3751134	FBXL10	Cis_1M	lymphoblastoid	RTeQTL
rs3751134	RNF10	cis	cerebellum	SCAN
rs3751134	HNF1A	cis	cerebellum	SCAN
rs3751134	GCN1L1	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121839000-121861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:121839000-121866400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121839000-121866400	Weak transcription	Small Intestine	intestine
4	chr12:121839200-121860800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:121841400-121874600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:121850000-121871800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:121850400-121887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:121850800-121874600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:121851000-121870800	Strong transcription	Fetal Thymus	thymus
10	chr12:121851600-121862200	Strong transcription	GM12878-XiMat	blood
11	chr12:121851600-121862400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:121851600-121872200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:121851600-121874400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121851800-121861400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:121851800-121861400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:121851800-121869000	Strong transcription	Hela-S3	cervix
17	chr12:121851800-121874600	Strong transcription	Dnd41	blood
18	chr12:121851800-121891400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:121852000-121862200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:121852000-121862400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:121852000-121862400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:121852000-121874400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:121852200-121861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:121852200-121862600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:121852200-121863000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:121852200-121871600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:121852200-121872200	Strong transcription	Liver	Liver
28	chr12:121852200-121873400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:121852200-121874400	Strong transcription	Fetal Stomach	stomach
30	chr12:121852200-121883200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:121852200-121884800	Strong transcription	Primary T cells from cord blood	blood
32	chr12:121852400-121862600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:121852400-121872000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:121852400-121874400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:121852400-121881800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:121852600-121861000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:121852600-121861200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:121852600-121872200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:121852600-121881600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:121852800-121862200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:121852800-121872000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:121852800-121874200	Strong transcription	Thymus	Thymus
43	chr12:121853000-121874400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:121853000-121884800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:121853200-121858600	Strong transcription	HepG2	liver
46	chr12:121853400-121869600	Strong transcription	Osteobl	bone
47	chr12:121853600-121860600	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:121853600-121862000	Strong transcription	HSMM	muscle
49	chr12:121853600-121872000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:121853800-121858400	Strong transcription	Brain Germinal Matrix	brain

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