Variant report

Variant	rs1973723
Chromosome Location	chr11:108033955-108033956
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	chr11:108033017..108035255-chr11:108043610..108046015,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10789656	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890821	0.92[EUR][1000 genomes]
rs10890822	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212527	0.88[EUR][1000 genomes]
rs11212538	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212542	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212543	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11212546	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212551	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11605442	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12272183	0.87[EUR][1000 genomes]
rs12575358	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12787445	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1607476	0.87[EUR][1000 genomes]
rs172927	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs183459	0.86[EUR][1000 genomes]
rs183460	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1850730	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs189037	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1893812	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893813	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2056267	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070661	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2083707	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228589	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs228590	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs228591	0.88[EUR][1000 genomes]
rs228592	0.82[EUR][1000 genomes]
rs228594	0.83[EUR][1000 genomes]
rs228596	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs228597	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs228598	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs228599	0.83[EUR][1000 genomes]
rs228601	0.81[AMR][1000 genomes]
rs228607	0.86[EUR][1000 genomes]
rs228608	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3781868	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3781869	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4027718	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4623864	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4753833	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4754299	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4754301	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4754305	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4754306	0.82[AMR][1000 genomes]
rs599406	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs600691	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs600931	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs609557	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs623860	0.83[EUR][1000 genomes]
rs624888	0.81[AMR][1000 genomes]
rs625120	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs637064	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs641605	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6589004	0.86[ASN][1000 genomes]
rs6589007	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6589008	0.87[EUR][1000 genomes]
rs661467	0.82[EUR][1000 genomes]
rs672655	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs672964	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs694799	0.82[EUR][1000 genomes]
rs7118967	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7129527	0.83[ASN][1000 genomes]
rs7395528	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7932972	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948117	0.85[EUR][1000 genomes];0.81[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
rs1973723	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr11:108002400-108040200	Strong transcription	Liver	Liver
4	chr11:108002800-108048000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:108003600-108040800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:108004200-108035000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr11:108004400-108037600	Strong transcription	Adipose Nuclei	Adipose
8	chr11:108005800-108040800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:108009000-108041000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:108009200-108071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:108009400-108040400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:108009400-108062600	Strong transcription	Primary T cells from cord blood	blood
13	chr11:108009400-108068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:108009600-108041800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:108009600-108049000	Strong transcription	Placenta	Placenta
16	chr11:108009600-108068200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:108009800-108048000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:108010600-108071200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:108010800-108038800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:108010800-108041400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:108010800-108041800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:108010800-108049200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:108011000-108038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:108011600-108044200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:108011800-108047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:108015600-108045000	Weak transcription	Stomach Mucosa	stomach
27	chr11:108015800-108038000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:108016200-108039800	Weak transcription	Fetal Heart	heart
29	chr11:108016600-108035400	Strong transcription	Fetal Lung	lung
30	chr11:108017000-108075000	Strong transcription	Dnd41	blood
31	chr11:108018200-108040600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:108019000-108040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:108019000-108043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:108021000-108039400	Weak transcription	Brain Angular Gyrus	brain
35	chr11:108022800-108043000	Weak transcription	Colonic Mucosa	Colon
36	chr11:108022800-108052600	Weak transcription	Spleen	Spleen
37	chr11:108023000-108035000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:108023000-108053000	Weak transcription	Pancreas	Pancrea
39	chr11:108023000-108055400	Weak transcription	Esophagus	oesophagus
40	chr11:108023800-108041000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:108023800-108053200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:108024600-108047600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:108024800-108036200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:108024800-108070400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:108025600-108041600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:108025800-108041000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:108026000-108036000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:108026200-108072200	Strong transcription	Fetal Thymus	thymus
49	chr11:108026600-108040800	Weak transcription	NHLF	lung
50	chr11:108026600-108047200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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