Variant report

Variant	rs6589004
Chromosome Location	chr11:108023745-108023746
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	chr11:108017852..108020393-chr11:108022620..108024136,2	K562	blood:
2	chr11:108022463..108026326-chr11:108027495..108029959,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAT1-1	chr11:108022888-108024634	NONHSAT024015

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10789656	0.87[ASN][1000 genomes]
rs10890821	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10890822	0.89[ASN][1000 genomes]
rs11212527	0.88[AFR][1000 genomes]
rs11212543	0.88[ASN][1000 genomes]
rs11212551	0.85[ASN][1000 genomes]
rs11605442	0.85[ASN][1000 genomes]
rs12272183	0.81[ASN][1000 genomes]
rs12575358	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12787445	0.90[ASN][1000 genomes]
rs1607476	0.81[ASN][1000 genomes]
rs183460	0.81[ASN][1000 genomes]
rs1850730	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1893812	0.88[ASN][1000 genomes]
rs1893813	0.85[ASN][1000 genomes]
rs1973723	0.86[ASN][1000 genomes]
rs2056267	0.85[ASN][1000 genomes]
rs2070661	0.82[ASN][1000 genomes]
rs2083707	0.83[ASN][1000 genomes]
rs228589	0.81[ASN][1000 genomes]
rs228608	0.81[ASN][1000 genomes]
rs3781868	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3781869	0.81[ASN][1000 genomes]
rs4027718	0.87[ASN][1000 genomes]
rs4623864	0.87[ASN][1000 genomes]
rs4753833	0.81[ASN][1000 genomes]
rs4754299	0.90[ASN][1000 genomes]
rs4754301	0.87[ASN][1000 genomes]
rs4754305	0.85[ASN][1000 genomes]
rs609557	0.81[ASN][1000 genomes]
rs6589007	0.87[ASN][1000 genomes]
rs7118967	0.85[ASN][1000 genomes]
rs7395528	0.88[ASN][1000 genomes]
rs7948117	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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
rs6589004	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	chr11:107993200-108030000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:107994000-108029600	Weak transcription	Fetal Brain Male	brain
4	chr11:108002200-108069600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:108002400-108040200	Strong transcription	Liver	Liver
6	chr11:108002800-108024800	Strong transcription	Fetal Muscle Leg	muscle
7	chr11:108002800-108027000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:108002800-108027200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:108003600-108040800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:108004200-108035000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr11:108004400-108037600	Strong transcription	Adipose Nuclei	Adipose
13	chr11:108005800-108040800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:108006800-108023800	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:108007400-108033600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:108007800-108032000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:108008600-108031200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:108009000-108041000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:108009200-108033400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:108009400-108028000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:108009400-108031200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:108009400-108040400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
25	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:108009600-108027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:108009600-108041800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
29	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:108010800-108038800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:108010800-108041400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:108010800-108041800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:108011000-108038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:108011200-108027000	Strong transcription	GM12878-XiMat	blood
38	chr11:108011600-108044200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:108011800-108047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:108013000-108024400	Strong transcription	NHEK	skin
41	chr11:108013200-108024600	Strong transcription	Fetal Thymus	thymus
42	chr11:108014000-108024400	Weak transcription	NHLF	lung
43	chr11:108015200-108031400	Weak transcription	HSMMtube	muscle
44	chr11:108015400-108025000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:108015400-108031800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:108015600-108031400	Weak transcription	Gastric	stomach
47	chr11:108015600-108045000	Weak transcription	Stomach Mucosa	stomach
48	chr11:108015800-108030800	Weak transcription	Small Intestine	intestine
49	chr11:108015800-108038000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:108016000-108033000	Strong transcription	HSMM	muscle

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