Variant report

Variant	rs8462
Chromosome Location	chr12:121862071-121862072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121861656..121865460-chr12:121901915..121906805,6	K562	blood:
2	chr12:121861749..121863551-chr12:121904176..121905959,2	MCF-7	breast:
3	chr12:121841412..121843273-chr12:121861123..121863390,2	K562	blood:
4	chr12:121787955..121791488-chr12:121861565..121864907,4	K562	blood:
5	chr12:121836117..121837710-chr12:121861710..121863400,2	K562	blood:

Variant related genes	Relation type
ENSG00000089053	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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1138515	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs11829166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830307	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11831204	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832889	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11833355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837988	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099579	0.95[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];0.97[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];0.95[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];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3763973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871623	0.93[EUR][1000 genomes]
rs55997636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55999842	0.98[EUR][1000 genomes]
rs56040349	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56174403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56196633	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57206363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57636873	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57703781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57917604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57944841	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58290222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58583717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59199848	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59558352	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59645029	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59697780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59966462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60270456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60582822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60801024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61697335	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295059	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295066	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295365	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295405	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316418	0.83[YRI][hapmap]
rs7954896	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960820	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961001	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967850	0.98[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]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8462	NOS1	cis	parietal	SCAN
rs8462	HNF1A	cis	cerebellum	SCAN
rs8462	GCN1L1	cis	cerebellum	SCAN
rs8462	FBXL10	Cis_1M	lymphoblastoid	RTeQTL
rs8462	RNF10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121839000-121866400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121839000-121866400	Weak transcription	Small Intestine	intestine
3	chr12:121841400-121874600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121850000-121871800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:121850400-121887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:121850800-121874600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:121851000-121870800	Strong transcription	Fetal Thymus	thymus
8	chr12:121851600-121862200	Strong transcription	GM12878-XiMat	blood
9	chr12:121851600-121862400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:121851600-121872200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:121851600-121874400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121851800-121869000	Strong transcription	Hela-S3	cervix
13	chr12:121851800-121874600	Strong transcription	Dnd41	blood
14	chr12:121851800-121891400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121852000-121862200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:121852000-121862400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:121852000-121862400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:121852000-121874400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:121852200-121862600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:121852200-121863000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:121852200-121871600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:121852200-121872200	Strong transcription	Liver	Liver
23	chr12:121852200-121873400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:121852200-121874400	Strong transcription	Fetal Stomach	stomach
25	chr12:121852200-121883200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:121852200-121884800	Strong transcription	Primary T cells from cord blood	blood
27	chr12:121852400-121862600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:121852400-121872000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:121852400-121874400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:121852400-121881800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:121852600-121872200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:121852600-121881600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr12:121852800-121862200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:121852800-121872000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:121852800-121874200	Strong transcription	Thymus	Thymus
36	chr12:121853000-121874400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:121853000-121884800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:121853400-121869600	Strong transcription	Osteobl	bone
39	chr12:121853600-121872000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:121853800-121862800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:121853800-121863200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:121853800-121863400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:121853800-121863600	Strong transcription	Fetal Brain Female	brain
44	chr12:121853800-121863600	Strong transcription	NHEK	skin
45	chr12:121853800-121869600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:121853800-121870800	Strong transcription	NH-A	brain
47	chr12:121853800-121871400	Strong transcription	Placenta	Placenta
48	chr12:121853800-121874000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:121853800-121880800	Strong transcription	Ovary	ovary
50	chr12:121853800-121880800	Strong transcription	Rectal Mucosa Donor 29	rectum

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