Variant report

Variant	rs4565865
Chromosome Location	chr11:107906266-107906267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107898187..107900858-chr11:107905424..107907294,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11212474	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212475	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11600706	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600740	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602683	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603079	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605878	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606820	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11607758	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822270	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822651	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825746	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825936	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11828176	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107675	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617000	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3741053	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3781870	0.80[EUR][1000 genomes]
rs58243661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103534	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107097	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130647	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73555359	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73555372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557106	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73557122	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557155	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557188	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927717	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929383	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7936826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943669	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947408	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1040345	chr11:107824764-107924309	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4565865	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107882200-107907800	Weak transcription	Fetal Kidney	kidney
2	chr11:107882200-107908000	Weak transcription	A549	lung
3	chr11:107882200-107917000	Weak transcription	NH-A	brain
4	chr11:107884400-107926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:107884400-107942000	Weak transcription	Esophagus	oesophagus
6	chr11:107884800-107929200	Weak transcription	NHEK	skin
7	chr11:107890800-107926800	Weak transcription	Hela-S3	cervix
8	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:107891200-107908000	Weak transcription	NHDF-Ad	bronchial
11	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine
12	chr11:107891400-107914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:107896400-107927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:107896600-107907400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:107896600-107917600	Weak transcription	Pancreas	Pancrea
16	chr11:107896600-107922800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:107896600-107926600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:107896600-107962000	Weak transcription	Right Ventricle	heart
19	chr11:107897000-107907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:107897400-107907800	Weak transcription	Ovary	ovary
21	chr11:107898000-107924600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:107900000-107917800	Weak transcription	Gastric	stomach
23	chr11:107900000-107921000	Weak transcription	Stomach Mucosa	stomach
24	chr11:107901400-107906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:107901600-107913000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:107901600-107913400	Strong transcription	Primary T cells from cord blood	blood
27	chr11:107901600-107933800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:107902400-107911800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:107902400-107918600	Weak transcription	HSMMtube	muscle
30	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:107902800-107916600	Weak transcription	HMEC	breast
32	chr11:107903000-107927800	Weak transcription	Fetal Brain Male	brain
33	chr11:107903400-107935200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:107903600-107908600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:107903600-107909000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:107903600-107957600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:107903800-107908400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:107903800-107908600	Strong transcription	Fetal Thymus	thymus
39	chr11:107903800-107908800	Strong transcription	Primary B cells from cord blood	blood
40	chr11:107903800-107911000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr11:107903800-107938000	Strong transcription	Dnd41	blood
42	chr11:107904000-107906600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:107904000-107906800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:107904000-107908600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:107904000-107908600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:107904000-107908800	Strong transcription	GM12878-XiMat	blood
47	chr11:107904000-107910600	Strong transcription	Fetal Brain Female	brain
48	chr11:107904000-107911000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:107904000-107911800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:107904200-107906800	Strong transcription	HSMM	muscle

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