Variant report

Variant	rs1114660
Chromosome Location	chr1:58975094-58975095
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10789063	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10789067	0.83[ASN][1000 genomes]
rs10889098	1.00[ASN][1000 genomes]
rs11207236	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11207237	0.96[ASN][1000 genomes]
rs11207240	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1121422	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581395	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030713	0.87[ASN][1000 genomes]
rs12088149	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12124662	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1388981	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1775002	0.82[ASN][1000 genomes]
rs28529311	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs338224	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs338225	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4912195	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912344	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6587818	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587819	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587828	0.87[ASN][1000 genomes]
rs6656025	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667614	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6667703	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687324	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67639631	0.87[ASN][1000 genomes]
rs7517424	0.86[ASN][1000 genomes]
rs7520008	0.87[ASN][1000 genomes]
rs7536230	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544032	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7547036	0.83[ASN][1000 genomes]
rs7554278	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9660901	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[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	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1114660	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL
rs1114660	TACSTD2	cis	Thyroid	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:58932600-58977000	Weak transcription	HSMMtube	muscle
4	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:58934800-58976600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:58934800-58994000	Weak transcription	HSMM	muscle
7	chr1:58944600-58976000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:58946200-58977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
10	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:58946600-58977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:58947600-58977000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:58948400-58977000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:58950200-58976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:58952800-58977200	Weak transcription	Small Intestine	intestine
16	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
17	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:58955000-58976600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:58955000-58976800	Weak transcription	Fetal Kidney	kidney
20	chr1:58955000-58986400	Weak transcription	Gastric	stomach
21	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:58960800-58976600	Weak transcription	Brain Anterior Caudate	brain
23	chr1:58963800-58999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:58964200-58978600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:58964800-58986400	Weak transcription	K562	blood
26	chr1:58966400-58976800	Weak transcription	NHEK	skin
27	chr1:58966600-59010600	Weak transcription	Placenta	Placenta
28	chr1:58967600-59010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:58968200-58986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:58968400-58984600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:58969200-58977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:58970800-58976800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:58971800-58976600	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:58972000-58977000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:58972200-58977200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:58972400-58976800	Weak transcription	Psoas Muscle	Psoas
37	chr1:58973200-58976600	Weak transcription	Brain Germinal Matrix	brain
38	chr1:58973600-58975200	Enhancers	Fetal Heart	heart
39	chr1:58973600-58976600	Strong transcription	Primary B cells from cord blood	blood
40	chr1:58973800-58980600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:58974000-58975200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:58974000-58975600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:58974000-58975600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:58974400-58978600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:58974600-58976600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:58974600-58977000	Weak transcription	Lung	lung
47	chr1:58974600-58977000	Weak transcription	Thymus	Thymus
48	chr1:58974600-58987600	Weak transcription	Right Ventricle	heart
49	chr1:58974800-58975600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:58974800-58976400	Weak transcription	Brain Cingulate Gyrus	brain

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