Variant report

Variant	rs6589008
Chromosome Location	chr11:108041897-108041898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107992936..107994517-chr11:108041386..108043018,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10789656	0.87[EUR][1000 genomes]
rs10890821	0.83[EUR][1000 genomes]
rs11212538	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212542	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212543	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212546	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212551	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11212579	0.82[EUR][1000 genomes]
rs11605442	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12272183	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12575358	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12787445	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1607476	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs172927	0.83[EUR][1000 genomes]
rs183459	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs183460	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1850730	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs189037	0.92[EUR][1000 genomes]
rs1893812	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1893813	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1973723	0.87[EUR][1000 genomes]
rs2056267	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2070661	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2083707	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs228588	0.82[EUR][1000 genomes]
rs228589	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228590	0.90[EUR][1000 genomes]
rs228591	0.90[EUR][1000 genomes]
rs228592	0.84[EUR][1000 genomes]
rs228594	0.85[EUR][1000 genomes]
rs228596	0.88[EUR][1000 genomes]
rs228597	0.88[EUR][1000 genomes]
rs228598	0.88[EUR][1000 genomes]
rs228599	0.85[EUR][1000 genomes]
rs228607	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs228608	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3781868	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3781869	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4027718	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4623864	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4753833	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4754299	0.85[EUR][1000 genomes]
rs4754301	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754305	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4754306	0.80[EUR][1000 genomes]
rs4987982	0.80[EUR][1000 genomes]
rs599164	0.82[EUR][1000 genomes]
rs599406	0.84[EUR][1000 genomes]
rs600691	0.84[EUR][1000 genomes]
rs600931	0.84[EUR][1000 genomes]
rs609557	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs618499	0.81[EUR][1000 genomes]
rs623860	0.85[EUR][1000 genomes]
rs625120	0.90[EUR][1000 genomes]
rs627418	0.81[EUR][1000 genomes]
rs637064	0.83[EUR][1000 genomes]
rs641312	0.81[EUR][1000 genomes]
rs641605	0.87[EUR][1000 genomes]
rs642496	0.81[EUR][1000 genomes]
rs6589007	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs661467	0.84[EUR][1000 genomes]
rs664677	0.81[EUR][1000 genomes]
rs672655	0.83[EUR][1000 genomes]
rs672964	0.82[EUR][1000 genomes]
rs679782	0.82[EUR][1000 genomes]
rs694376	0.82[EUR][1000 genomes]
rs694799	0.84[EUR][1000 genomes]
rs7118967	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7395528	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7932972	0.83[EUR][1000 genomes]
rs7948117	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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
rs6589008	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
6	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
8	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:108011600-108044200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:108011800-108047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:108015600-108045000	Weak transcription	Stomach Mucosa	stomach
15	chr11:108017000-108075000	Strong transcription	Dnd41	blood
16	chr11:108019000-108043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:108022800-108043000	Weak transcription	Colonic Mucosa	Colon
18	chr11:108022800-108052600	Weak transcription	Spleen	Spleen
19	chr11:108023000-108053000	Weak transcription	Pancreas	Pancrea
20	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
21	chr11:108023800-108053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:108024600-108047600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
25	chr11:108026600-108047200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:108026800-108071000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:108027000-108069800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:108028800-108068000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:108029200-108067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:108029600-108043400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:108030000-108048800	Strong transcription	Fetal Intestine Large	intestine
32	chr11:108032400-108044200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:108032600-108045000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:108032600-108075000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:108032800-108051800	Weak transcription	Gastric	stomach
36	chr11:108033400-108051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:108033400-108053200	Weak transcription	Aorta	Aorta
38	chr11:108035400-108043400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:108035400-108059600	Weak transcription	HSMMtube	muscle
40	chr11:108036000-108042600	Weak transcription	HMEC	breast
41	chr11:108037000-108043000	Weak transcription	Lung	lung
42	chr11:108037200-108046800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:108037200-108052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:108037800-108043200	Strong transcription	Left Ventricle	heart
45	chr11:108038200-108042000	Weak transcription	Fetal Stomach	stomach
46	chr11:108038400-108042000	Weak transcription	Fetal Intestine Small	intestine
47	chr11:108038400-108042200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:108038400-108042800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:108038400-108052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:108039400-108068200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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