Variant report

Variant	rs12133674
Chromosome Location	chr1:184719882-184719883
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184719034..184720835-chr1:184729279..184731046,2	MCF-7	breast:
2	chr1:184660734..184663432-chr1:184719379..184720906,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1040666	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1046239	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10752941	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10797987	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10911640	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11808675	0.84[ASN][1000 genomes]
rs12032144	0.82[EUR][1000 genomes]
rs12043236	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12071631	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12124714	0.82[EUR][1000 genomes]
rs2024765	0.88[EUR][1000 genomes]
rs2024767	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2207733	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2333716	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35478695	0.83[EUR][1000 genomes]
rs3736757	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3895196	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4469687	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6663178	0.92[EUR][1000 genomes]
rs6677073	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7523023	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7525074	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs861579	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs861582	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9425341	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9425633	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9425634	0.81[EUR][1000 genomes]
rs9658937	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9661314	0.93[EUR][1000 genomes]
rs971080	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12133674	EDEM3	cis	Artery Tibial	GTEx
rs12133674	EDEM3	Cis_1M	lymphoblastoid	RTeQTL
rs12133674	EDEM3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
2	chr1:184677600-184723200	Weak transcription	Lung	lung
3	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
4	chr1:184685400-184722800	Weak transcription	Ovary	ovary
5	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
6	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:184690400-184721800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:184698200-184722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:184699800-184722200	Weak transcription	Fetal Stomach	stomach
11	chr1:184701600-184721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:184702200-184721800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:184702200-184721800	Weak transcription	NH-A	brain
14	chr1:184702200-184722200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:184703200-184721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:184703200-184722800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:184703400-184721400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:184703600-184720800	Weak transcription	Pancreas	Pancrea
19	chr1:184704600-184721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184705000-184721800	Weak transcription	NHEK	skin
21	chr1:184706200-184722400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:184706800-184721800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:184706800-184721800	Weak transcription	Osteobl	bone
24	chr1:184707000-184721800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:184707000-184723000	Weak transcription	Placenta	Placenta
26	chr1:184707200-184722600	Weak transcription	HSMM	muscle
27	chr1:184712000-184722800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:184712400-184721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:184712600-184722600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:184715000-184722800	Weak transcription	Fetal Brain Male	brain
31	chr1:184715400-184721800	Weak transcription	Brain Substantia Nigra	brain
32	chr1:184715400-184722600	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:184715600-184721400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:184715600-184721800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:184715600-184721800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:184715800-184721800	Weak transcription	Brain Anterior Caudate	brain
37	chr1:184715800-184721800	Weak transcription	Fetal Kidney	kidney
38	chr1:184715800-184722000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:184715800-184722200	Weak transcription	NHLF	lung
40	chr1:184715800-184722600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:184716000-184720800	Weak transcription	Small Intestine	intestine
42	chr1:184716000-184721800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:184716000-184721800	Weak transcription	HUVEC	blood vessel
44	chr1:184716000-184722600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:184716200-184720600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:184716200-184721000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:184716200-184721000	Weak transcription	Fetal Intestine Large	intestine
48	chr1:184716600-184721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:184716600-184721800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:184716600-184722400	Weak transcription	Fetal Thymus	thymus

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