Variant report

Variant	rs12495133
Chromosome Location	chr3:78921520-78921521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:78917265..78919312-chr3:78919747..78921686,2	MCF-7	breast:
2	chr3:78917237..78919813-chr3:78920275..78923386,3	MCF-7	breast:
3	chr3:78920993..78923314-chr3:79066698..79068465,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169855	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1031932	0.88[AFR][1000 genomes]
rs11924366	0.91[EUR][1000 genomes]
rs4680943	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73114798	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834744	chr3:78911545-79076470	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv877020	chr3:78913203-78975982	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv470672	chr3:78913203-78985805	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590734	chr3:78915205-78985805	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78916200-78923000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:78917400-78927000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:78917600-78924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:78918000-78924800	Weak transcription	NHDF-Ad	bronchial
5	chr3:78918000-78928800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:78918000-78929800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:78918800-78927400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:78919200-78923400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:78919400-78921800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:78919400-78922200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:78919400-78923000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:78919800-78922200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:78919800-78923000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:78920000-78922800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:78920000-78924800	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:78920200-78923000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:78920400-78923200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:78920400-78927000	Weak transcription	Aorta	Aorta
19	chr3:78920600-78922000	Enhancers	NH-A	brain
20	chr3:78920800-78924600	Weak transcription	Osteobl	bone
21	chr3:78920800-78927000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:78921000-78921600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:78921000-78921600	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:78921200-78921600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:78921200-78921600	Active TSS	Brain Substantia Nigra	brain
26	chr3:78921200-78921600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:78921200-78921600	Enhancers	HSMM	muscle
28	chr3:78921200-78921800	Enhancers	Fetal Brain Male	brain
29	chr3:78921200-78921800	Enhancers	Fetal Kidney	kidney
30	chr3:78921200-78922000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:78921200-78922400	Enhancers	Fetal Heart	heart
32	chr3:78921200-78922600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:78921200-78922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:78921200-78922600	Enhancers	HUVEC	blood vessel
35	chr3:78921200-78923200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:78921400-78921600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr3:78921400-78921600	Enhancers	Gastric	stomach
38	chr3:78921400-78921600	Flanking Active TSS	HepG2	liver
39	chr3:78921400-78921800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr3:78921400-78921800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr3:78921400-78921800	Enhancers	Brain Angular Gyrus	brain
42	chr3:78921400-78921800	Active TSS	Brain Anterior Caudate	brain
43	chr3:78921400-78921800	Enhancers	Brain Germinal Matrix	brain
44	chr3:78921400-78921800	Enhancers	Fetal Lung	lung
45	chr3:78921400-78922000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:78921400-78922000	Enhancers	Colon Smooth Muscle	Colon
47	chr3:78921400-78922400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:78921400-78923000	Active TSS	A549	lung
49	chr3:78921400-78923200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:78921400-78924400	Weak transcription	Muscle Satellite Cultured Cells	--

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