Variant report

Variant	rs228607
Chromosome Location	chr11:108088493-108088494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108071455..108073247-chr11:108087977..108089768,2	K562	blood:
2	chr11:108087405..108089573-chr11:108637828..108639392,2	K562	blood:
3	chr11:108062624..108065338-chr11:108088308..108091016,2	K562	blood:
4	chr11:108087467..108089290-chr11:108094676..108097621,3	MCF-7	breast:
5	chr11:107991146..107993770-chr11:108087993..108092186,3	K562	blood:
6	chr11:108069760..108073247-chr11:108087565..108091000,4	K562	blood:

Variant related genes	Relation type
ENSG00000255467	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000178105	Chromatin interaction
ENSG00000075239	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1003623	0.84[EUR][1000 genomes]
rs1003624	0.84[EUR][1000 genomes]
rs10789656	0.85[EUR][1000 genomes]
rs10789659	0.87[AMR][1000 genomes]
rs10890821	0.82[EUR][1000 genomes]
rs11212538	0.93[EUR][1000 genomes]
rs11212542	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11212543	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11212546	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11212551	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11212579	0.87[EUR][1000 genomes]
rs113995	0.81[AMR][1000 genomes]
rs1150203	0.84[EUR][1000 genomes]
rs11605442	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12272183	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12575358	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787445	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1583598	0.81[AMR][1000 genomes]
rs1607476	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs170547	0.80[AMR][1000 genomes]
rs172927	0.88[EUR][1000 genomes]
rs183459	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183460	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1850730	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs186594	0.81[AMR][1000 genomes]
rs186595	0.81[AMR][1000 genomes]
rs189037	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893812	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1893813	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1973723	0.86[EUR][1000 genomes]
rs2056267	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070661	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2083707	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227040	0.83[AMR][1000 genomes]
rs227041	0.81[AMR][1000 genomes]
rs227053	0.81[AMR][1000 genomes]
rs227054	0.89[AMR][1000 genomes]
rs227061	0.81[AMR][1000 genomes]
rs227062	0.83[AMR][1000 genomes]
rs227063	0.85[AMR][1000 genomes]
rs227064	0.91[AMR][1000 genomes]
rs227066	0.91[AMR][1000 genomes]
rs227067	0.89[AMR][1000 genomes]
rs227070	0.93[AMR][1000 genomes]
rs227072	0.83[AMR][1000 genomes]
rs227073	0.81[AMR][1000 genomes]
rs227074	0.83[AMR][1000 genomes]
rs227075	0.93[AMR][1000 genomes]
rs227076	0.81[AMR][1000 genomes]
rs227077	0.81[AMR][1000 genomes]
rs227094	0.83[AMR][1000 genomes]
rs228588	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs228590	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228591	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs228592	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs228594	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228596	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs228597	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228598	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228599	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228601	0.85[EUR][1000 genomes]
rs228608	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs374443	0.91[AMR][1000 genomes]
rs3781868	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3781869	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4027718	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs419716	0.81[AMR][1000 genomes]
rs425061	0.81[AMR][1000 genomes]
rs425538	0.93[AMR][1000 genomes]
rs4623864	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4753833	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4754299	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754301	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4754305	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4754306	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4987982	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs573890	0.81[AMR][1000 genomes]
rs582157	0.81[EUR][1000 genomes]
rs583725	0.84[EUR][1000 genomes]
rs592955	0.82[EUR][1000 genomes]
rs594153	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs595747	0.91[AMR][1000 genomes]
rs599164	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs599406	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs599558	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs600329	0.84[EUR][1000 genomes]
rs600691	0.89[EUR][1000 genomes]
rs600931	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs601111	0.84[EUR][1000 genomes]
rs606275	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60683001	0.83[AMR][1000 genomes]
rs608086	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs609261	0.84[EUR][1000 genomes]
rs609429	0.83[AMR][1000 genomes]
rs609557	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs609655	0.82[AMR][1000 genomes]
rs618499	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs619972	0.84[EUR][1000 genomes]
rs620613	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs621947	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs623860	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs624366	0.84[EUR][1000 genomes]
rs624852	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs625120	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs627418	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs634268	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs637064	0.88[EUR][1000 genomes]
rs641312	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs641605	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs642496	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs645485	0.84[EUR][1000 genomes]
rs647681	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs650128	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs650173	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs652311	0.81[AMR][1000 genomes]
rs652541	0.93[AMR][1000 genomes]
rs654005	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6589007	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6589008	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs660429	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs661467	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs662218	0.82[AMR][1000 genomes]
rs662578	0.83[AMR][1000 genomes]
rs664143	0.93[AMR][1000 genomes]
rs664677	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs664982	0.83[AMR][1000 genomes]
rs672655	0.88[EUR][1000 genomes]
rs672964	0.87[EUR][1000 genomes]
rs673281	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs676729	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs679782	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs694376	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs694799	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7118967	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7395528	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7932972	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7948117	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9667658	0.83[AMR][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	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs228607	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	chr11:108062600-108090800	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:108070600-108089800	Weak transcription	Psoas Muscle	Psoas
3	chr11:108071000-108091600	Weak transcription	Right Atrium	heart
4	chr11:108071400-108092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:108074400-108090800	Weak transcription	Small Intestine	intestine
6	chr11:108077800-108089200	Weak transcription	HMEC	breast
7	chr11:108078000-108090400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:108078000-108090600	Weak transcription	Fetal Heart	heart
9	chr11:108078200-108089000	Weak transcription	Osteobl	bone
10	chr11:108078200-108089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:108078200-108089400	Weak transcription	NHDF-Ad	bronchial
12	chr11:108078400-108091800	Weak transcription	HSMMtube	muscle
13	chr11:108078600-108089800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:108078600-108089800	Weak transcription	Pancreas	Pancrea
15	chr11:108078600-108090600	Weak transcription	Aorta	Aorta
16	chr11:108078600-108090800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:108078600-108090800	Weak transcription	Brain Substantia Nigra	brain
18	chr11:108078600-108091600	Weak transcription	Right Ventricle	heart
19	chr11:108078600-108091800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:108078600-108091800	Weak transcription	Lung	lung
21	chr11:108078600-108092200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:108078600-108092200	Weak transcription	Esophagus	oesophagus
23	chr11:108078800-108089800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:108078800-108091400	Weak transcription	Adipose Nuclei	Adipose
25	chr11:108078800-108092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:108079000-108089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:108079000-108089800	Weak transcription	Hela-S3	cervix
28	chr11:108079000-108090800	Weak transcription	Brain Anterior Caudate	brain
29	chr11:108079000-108091000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:108079200-108089400	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:108079200-108089800	Weak transcription	Gastric	stomach
32	chr11:108079200-108090400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:108079200-108090600	Weak transcription	NHLF	lung
34	chr11:108079200-108091400	Weak transcription	NH-A	brain
35	chr11:108079200-108091800	Weak transcription	Brain Angular Gyrus	brain
36	chr11:108079200-108091800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:108079600-108090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:108079600-108091800	Weak transcription	Colonic Mucosa	Colon
39	chr11:108081400-108089800	Weak transcription	Fetal Brain Male	brain
40	chr11:108081400-108091800	Weak transcription	HSMM	muscle
41	chr11:108081600-108091400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:108081600-108091600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:108081800-108090600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:108081800-108091000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:108081800-108091600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:108081800-108091600	Weak transcription	A549	lung
47	chr11:108081800-108092200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:108082000-108091600	Weak transcription	Placenta	Placenta
49	chr11:108082200-108089400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:108082200-108091800	Weak transcription	Ovary	ovary

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