Variant report

Variant	rs55854804
Chromosome Location	chr11:108013006-108013007
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:108010714-108016397	K562	blood:	n/a	n/a
2	POLR2A	chr11:108012995-108013554	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:108012875-108014204	Hela-S3	cervix:	n/a	n/a
4	FOXA1	chr11:108012864-108013058	T-47D	breast:	n/a	n/a
5	POLR2A	chr11:108012796-108013385	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108011569..108014457-chr11:108017298..108019360,2	K562	blood:
2	chr11:108011494..108013707-chr11:108014897..108016452,2	K562	blood:

Variant related genes	Relation type
ACAT1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35188041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35219733	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3741053	0.85[ASN][1000 genomes]
rs3741054	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61214973	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][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
rs55854804	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr11:107993400-108013200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:107993400-108014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:107993400-108017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:107993600-108013200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:107993600-108018800	Weak transcription	Fetal Kidney	kidney
11	chr11:107994000-108029600	Weak transcription	Fetal Brain Male	brain
12	chr11:107994600-108013800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:107995000-108018600	Weak transcription	Hela-S3	cervix
14	chr11:107995400-108013200	Weak transcription	Gastric	stomach
15	chr11:107995600-108017800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:107996000-108021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:107996200-108019200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:107999000-108013200	Weak transcription	Psoas Muscle	Psoas
19	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:108002400-108040200	Strong transcription	Liver	Liver
21	chr11:108002800-108024800	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:108002800-108027000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:108002800-108027200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:108003000-108018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:108003600-108040800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:108004000-108022000	Strong transcription	Brain Hippocampus Middle	brain
28	chr11:108004200-108035000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:108004400-108017800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:108004400-108037600	Strong transcription	Adipose Nuclei	Adipose
31	chr11:108004800-108018600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:108005800-108040800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:108006600-108022800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:108006800-108023800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:108007000-108020600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:108007400-108033600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:108007600-108023000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:108007800-108022400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:108007800-108032000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:108008200-108018000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:108008200-108023000	Strong transcription	Fetal Stomach	stomach
42	chr11:108008600-108031200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:108009000-108022800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:108009000-108041000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:108009200-108015000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:108009200-108033400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:108009400-108016600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:108009400-108018800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:108009400-108022400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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