Variant report

Variant	rs2118309
Chromosome Location	chr11:108367453-108367454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108366167..108368903-chr11:108443011..108444966,2	K562	blood:
2	chr11:108366826..108370827-chr11:108463038..108466989,6	MCF-7	breast:
3	chr11:108366379..108367925-chr11:108380828..108383134,2	K562	blood:
4	chr11:108365318..108368296-chr11:108415682..108417854,2	K562	blood:
5	chr11:108367402..108370460-chr11:108461670..108466033,4	K562	blood:
6	chr11:108349924..108352916-chr11:108367439..108370058,3	K562	blood:
7	chr11:108351170..108356197-chr11:108366781..108370741,5	K562	blood:
8	chr11:108357626..108360245-chr11:108366934..108369201,3	MCF-7	breast:
9	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
10	chr11:108335947..108339609-chr11:108366598..108369824,4	MCF-7	breast:
11	chr11:108365650..108370333-chr11:108462736..108466617,7	K562	blood:
12	chr11:108361395..108363864-chr11:108365519..108367503,4	MCF-7	breast:
13	chr11:108333493..108335772-chr11:108366230..108368651,2	MCF-7	breast:
14	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110723	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000221607	Chromatin interaction
ENSG00000178202	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10749918	0.80[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10789659	0.89[CEU][hapmap]
rs10789665	0.86[ASN][1000 genomes]
rs10890834	0.88[CEU][hapmap]
rs10890849	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212617	0.92[CEU][hapmap]
rs11212635	0.84[EUR][1000 genomes]
rs11212659	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11212661	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs113995	0.89[CEU][hapmap]
rs12223381	0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12792979	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12796446	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12801988	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1583598	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs172894	0.89[CEU][hapmap]
rs172896	0.89[CEU][hapmap]
rs186595	0.92[CEU][hapmap]
rs227040	0.92[CEU][hapmap]
rs227041	0.92[CEU][hapmap]
rs227053	0.89[CEU][hapmap]
rs227055	0.92[CEU][hapmap]
rs227058	0.89[CEU][hapmap]
rs227061	0.92[CEU][hapmap]
rs227062	0.92[CEU][hapmap]
rs227064	0.92[CEU][hapmap]
rs227068	0.92[CEU][hapmap]
rs227070	0.92[CEU][hapmap]
rs227072	0.92[CEU][hapmap]
rs227073	0.92[CEU][hapmap]
rs227074	0.92[CEU][hapmap]
rs227075	0.92[CEU][hapmap]
rs227077	0.92[CEU][hapmap]
rs227087	0.92[CEU][hapmap]
rs227092	0.84[CEU][hapmap]
rs2356801	0.92[CEU][hapmap]
rs374443	0.89[CEU][hapmap]
rs3765632	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824987	0.82[JPT][hapmap]
rs3901851	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs419716	0.92[CEU][hapmap]
rs425538	0.92[CEU][hapmap]
rs4585	0.84[CEU][hapmap]
rs4754324	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs5023001	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs573890	0.92[CEU][hapmap]
rs595747	0.92[CEU][hapmap]
rs599558	0.92[CEU][hapmap]
rs609655	0.92[CEU][hapmap]
rs61913892	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs619972	0.92[CEU][hapmap]
rs620613	0.89[CEU][hapmap]
rs645485	0.92[CEU][hapmap]
rs652311	0.92[CEU][hapmap]
rs652541	0.92[CEU][hapmap]
rs6589019	0.89[CEU][hapmap]
rs660429	0.89[CEU][hapmap]
rs662218	0.89[CEU][hapmap]
rs662578	0.89[CEU][hapmap]
rs664143	0.92[CEU][hapmap]
rs673281	0.92[CEU][hapmap]
rs7120845	0.83[EUR][1000 genomes]
rs7126588	0.83[ASN][1000 genomes]
rs751343	0.88[ASN][1000 genomes]
rs7931930	0.92[CEU][hapmap]
rs7934719	0.84[ASN][1000 genomes]
rs7942014	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs7943203	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7943607	0.83[EUR][1000 genomes]
rs9667658	0.89[CEU][hapmap]

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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2118309	ACAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108338200-108367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108338600-108367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:108338800-108367600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:108338800-108367600	Weak transcription	Small Intestine	intestine
5	chr11:108338800-108368000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:108339000-108368000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:108339000-108368000	Weak transcription	Fetal Brain Female	brain
8	chr11:108339200-108367600	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:108339200-108367800	Weak transcription	Fetal Brain Male	brain
10	chr11:108339200-108368000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:108346000-108367600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:108348400-108367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:108348600-108367600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:108348800-108367600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:108353000-108367800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:108354400-108367600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:108356200-108367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:108356200-108368000	Weak transcription	Psoas Muscle	Psoas
19	chr11:108357200-108367600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:108357200-108367600	Weak transcription	HSMM	muscle
21	chr11:108357400-108368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:108357600-108367600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:108357800-108367600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:108357800-108367600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:108358400-108367800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:108359400-108367600	Weak transcription	Right Ventricle	heart
27	chr11:108359400-108367800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:108359400-108368000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:108359800-108367800	Weak transcription	Fetal Intestine Large	intestine
30	chr11:108360800-108367600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:108361000-108367600	Weak transcription	Left Ventricle	heart
32	chr11:108361000-108367600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:108361000-108367600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:108361000-108367600	Weak transcription	Thymus	Thymus
35	chr11:108361200-108367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:108361400-108368000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:108361400-108368000	Weak transcription	Aorta	Aorta
38	chr11:108361400-108368000	Weak transcription	Ovary	ovary
39	chr11:108361800-108367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:108362000-108367600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:108362000-108367600	Weak transcription	Fetal Thymus	thymus
42	chr11:108362200-108367600	Weak transcription	Primary T cells from cord blood	blood
43	chr11:108362200-108367600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:108365200-108368400	Weak transcription	Gastric	stomach
45	chr11:108365400-108367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:108365400-108367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:108365600-108368000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:108365800-108367600	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:108365800-108368000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:108366200-108367600	Weak transcription	Lung	lung

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