Variant report

Variant	rs11065598
Chromosome Location	chr12:121933663-121933664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121931595..121935193-chr12:122063683..122065952,3	MCF-7	breast:
2	chr12:121927625..121930242-chr12:121932378..121934082,2	K562	blood:
3	chr12:121924658..121926581-chr12:121931365..121934297,2	MCF-7	breast:
4	chr12:121932018..121934172-chr12:121942838..121945521,2	K562	blood:

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11065592	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11065593	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11065596	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065602	0.93[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11065603	0.97[ASN][1000 genomes]
rs11065604	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065605	0.93[ASN][1000 genomes]
rs11065608	0.88[ASN][1000 genomes]
rs11837997	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57917116	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60437938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489814	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6489815	0.85[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6489816	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307400	0.85[CEU][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7309786	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7316418	0.81[CHD][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7976858	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11065598	GCN1L1	cis	cerebellum	SCAN
rs11065598	FBXL10	Cis_1M	lymphoblastoid	RTeQTL
rs11065598	MED13L	cis	cerebellum	SCAN
rs11065598	NOS1	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121906000-121937800	Weak transcription	Aorta	Aorta
2	chr12:121906000-121938000	Weak transcription	Left Ventricle	heart
3	chr12:121906200-121938000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121906400-121933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:121906600-121938000	Weak transcription	NHDF-Ad	bronchial
6	chr12:121911400-121946400	Weak transcription	Pancreas	Pancrea
7	chr12:121913000-121938000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:121915000-121938000	Weak transcription	Osteobl	bone
9	chr12:121918200-121938000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:121919000-121937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:121919800-121938000	Weak transcription	Ovary	ovary
12	chr12:121924600-121946600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:121925200-121936800	Strong transcription	Fetal Stomach	stomach
14	chr12:121925600-121938000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:121925600-121943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:121926000-121946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:121926400-121938000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:121926400-121938000	Weak transcription	HSMMtube	muscle
19	chr12:121926600-121936400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:121926800-121934200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:121927400-121933800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:121928400-121934400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:121928400-121938000	Weak transcription	Right Ventricle	heart
24	chr12:121928600-121934800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:121928600-121937800	Weak transcription	Brain Germinal Matrix	brain
26	chr12:121928600-121937800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:121928600-121938000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:121928600-121941400	Weak transcription	Gastric	stomach
29	chr12:121928600-121945200	Weak transcription	Lung	lung
30	chr12:121928600-121946400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:121928600-121965800	Weak transcription	Hela-S3	cervix
32	chr12:121928800-121937600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:121928800-121937800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:121928800-121937800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:121928800-121938000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:121928800-121938000	Weak transcription	Adipose Nuclei	Adipose
37	chr12:121928800-121938000	Weak transcription	Fetal Heart	heart
38	chr12:121928800-121946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:121928800-121946400	Weak transcription	NHLF	lung
40	chr12:121929000-121934600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:121929000-121934600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:121929000-121938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:121929000-121938000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:121929000-121939800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:121929000-121946200	Weak transcription	Esophagus	oesophagus
46	chr12:121929000-121946400	Weak transcription	Placenta	Placenta
47	chr12:121929200-121934600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:121929200-121936800	Strong transcription	Fetal Intestine Small	intestine
49	chr12:121929200-121937800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:121929200-121938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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