Variant report

Variant	rs58725012
Chromosome Location	chr3:138076532-138076533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138073894..138077050-chr3:138080713..138083758,3	MCF-7	breast:
2	chr3:138067088..138069571-chr3:138075852..138077829,2	K562	blood:

Variant related genes	Relation type
ENSG00000158186	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10428128	1.00[EUR][1000 genomes]
rs11921301	1.00[EUR][1000 genomes]
rs11923867	1.00[EUR][1000 genomes]
rs11926199	1.00[EUR][1000 genomes]
rs1865	1.00[EUR][1000 genomes]
rs57333469	1.00[EUR][1000 genomes]
rs57752939	1.00[EUR][1000 genomes]
rs57873424	1.00[EUR][1000 genomes]
rs58205884	1.00[EUR][1000 genomes]
rs58886826	1.00[EUR][1000 genomes]
rs59086521	1.00[EUR][1000 genomes]
rs59316948	1.00[EUR][1000 genomes]
rs59336525	1.00[EUR][1000 genomes]
rs60121038	1.00[EUR][1000 genomes]
rs60331753	1.00[EUR][1000 genomes]
rs60635515	0.89[AMR][1000 genomes]
rs60779970	0.89[AMR][1000 genomes]
rs61361298	1.00[EUR][1000 genomes]
rs6439800	1.00[EUR][1000 genomes]
rs6794254	1.00[EUR][1000 genomes]
rs73864577	1.00[EUR][1000 genomes]
rs73864583	1.00[EUR][1000 genomes]
rs73864584	1.00[EUR][1000 genomes]
rs73864585	1.00[EUR][1000 genomes]
rs7625183	1.00[EUR][1000 genomes]
rs9755326	1.00[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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138068400-138083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:138068600-138084600	Weak transcription	Gastric	stomach
3	chr3:138068800-138093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:138069000-138077800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:138069200-138088200	Weak transcription	Fetal Lung	lung
6	chr3:138069400-138078000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:138069400-138080600	Weak transcription	NHLF	lung
8	chr3:138070000-138096600	Weak transcription	Fetal Brain Male	brain
9	chr3:138070200-138086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:138070800-138076800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:138071000-138085600	Weak transcription	Brain Germinal Matrix	brain
12	chr3:138071200-138080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:138071200-138082400	Weak transcription	Spleen	Spleen
14	chr3:138071200-138082800	Weak transcription	Esophagus	oesophagus
15	chr3:138071200-138096600	Weak transcription	Aorta	Aorta
16	chr3:138071600-138077600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:138071600-138086600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:138071800-138083400	Weak transcription	Placenta	Placenta
19	chr3:138072600-138080000	Genic enhancers	HSMMtube	muscle
20	chr3:138073000-138078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:138073800-138084600	Weak transcription	Fetal Intestine Small	intestine
22	chr3:138074000-138076800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:138074200-138077600	Enhancers	Brain Substantia Nigra	brain
24	chr3:138074200-138095600	Enhancers	Fetal Heart	heart
25	chr3:138074400-138078800	Weak transcription	Fetal Brain Female	brain
26	chr3:138074400-138079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:138074600-138077200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:138074600-138080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:138074800-138076800	Enhancers	Right Ventricle	heart
30	chr3:138074800-138079800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:138074800-138089800	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:138075000-138076600	Enhancers	Brain Angular Gyrus	brain
33	chr3:138075000-138077400	Enhancers	Fetal Muscle Leg	muscle
34	chr3:138075000-138077600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:138075000-138078000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:138075000-138086400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:138075000-138090000	Enhancers	Brain Anterior Caudate	brain
38	chr3:138075200-138079400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:138075400-138077000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr3:138075400-138080800	Enhancers	Psoas Muscle	Psoas
41	chr3:138075400-138087400	Enhancers	Right Atrium	heart
42	chr3:138075600-138077400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:138075600-138078400	Enhancers	Ovary	ovary
44	chr3:138075600-138079400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:138075600-138080200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:138075600-138080600	Enhancers	Fetal Muscle Trunk	muscle
47	chr3:138075600-138081200	Enhancers	Adipose Nuclei	Adipose
48	chr3:138075600-138081600	Enhancers	Brain Hippocampus Middle	brain
49	chr3:138075600-138082800	Enhancers	Left Ventricle	heart
50	chr3:138075600-138089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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