Variant report

Variant	rs9666209
Chromosome Location	chr11:108011566-108011567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108011494..108013707-chr11:108014897..108016452,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10749914	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10789654	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10789655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890814	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890815	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890816	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890817	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212524	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361905	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12807544	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550608	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356518	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4550189	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59688896	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7102368	0.87[ASN][1000 genomes]
rs7123836	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128286	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7926222	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9734846	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9666209	ACAT1	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108013200	Weak transcription	Fetal Thymus	thymus
2	chr11:107993200-108018600	Weak transcription	Thymus	Thymus
3	chr11:107993200-108021800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:107993200-108030000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:107993400-108012600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:107993400-108013200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:107993400-108014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:107993400-108017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:107993600-108013200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:107993600-108018800	Weak transcription	Fetal Kidney	kidney
12	chr11:107994000-108029600	Weak transcription	Fetal Brain Male	brain
13	chr11:107994600-108013800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:107994800-108011600	Weak transcription	Fetal Intestine Small	intestine
15	chr11:107995000-108018600	Weak transcription	Hela-S3	cervix
16	chr11:107995400-108011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:107995400-108013000	Weak transcription	Dnd41	blood
18	chr11:107995400-108013200	Weak transcription	Gastric	stomach
19	chr11:107995600-108011800	Weak transcription	Small Intestine	intestine
20	chr11:107995600-108017800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:107995800-108013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:107996000-108021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:107996200-108019200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:107999000-108011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:107999000-108013200	Weak transcription	Psoas Muscle	Psoas
26	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:108002400-108040200	Strong transcription	Liver	Liver
28	chr11:108002800-108024800	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:108002800-108027000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:108002800-108027200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:108003000-108018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:108003600-108040800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:108004000-108022000	Strong transcription	Brain Hippocampus Middle	brain
35	chr11:108004200-108035000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:108004400-108017800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:108004400-108037600	Strong transcription	Adipose Nuclei	Adipose
38	chr11:108004800-108018600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:108005800-108040800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:108006600-108022800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:108006800-108023800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:108007000-108020600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:108007200-108011600	Weak transcription	HSMMtube	muscle
44	chr11:108007400-108033600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:108007600-108023000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:108007800-108022400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:108007800-108032000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:108008200-108013000	Weak transcription	Brain Substantia Nigra	brain
49	chr11:108008200-108018000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:108008200-108023000	Strong transcription	Fetal Stomach	stomach

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