Variant report

Variant	rs67359172
Chromosome Location	chr1:184716979-184716980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184715138..184717798-chr17:57916015..57918507,3	MCF-7	breast:
2	chr1:184708584..184710764-chr1:184716187..184718399,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1062994	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911631	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911633	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911634	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911636	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911644	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808675	0.83[EUR][1000 genomes]
rs12031028	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12032144	0.81[AMR][1000 genomes]
rs12124929	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126231	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12131285	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12133128	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12137438	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12184284	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12567225	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12567226	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2064605	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2333715	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2877994	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4233120	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4651230	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs861574	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs861575	0.84[EUR][1000 genomes]
rs861576	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs861577	0.84[EUR][1000 genomes]
rs861583	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425338	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9425340	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9425343	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425632	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9425634	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs971081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67359172	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	chr1:184710800-184717000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:184710800-184719600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:184712000-184722800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:184712400-184721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:184712600-184722600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:184713000-184717200	Enhancers	Primary T cells from cord blood	blood
33	chr1:184713800-184717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:184714400-184717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:184715000-184722800	Weak transcription	Fetal Brain Male	brain
36	chr1:184715200-184717200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:184715400-184717200	Enhancers	Stomach Mucosa	stomach
38	chr1:184715400-184717400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:184715400-184717600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:184715400-184721800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:184715400-184722600	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:184715600-184717000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:184715600-184717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:184715600-184717200	Genic enhancers	Dnd41	blood
45	chr1:184715600-184718000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:184715600-184718600	Weak transcription	HSMMtube	muscle
47	chr1:184715600-184719800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:184715600-184721400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:184715600-184721800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:184715600-184721800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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