Variant report

Variant	rs59388346
Chromosome Location	chr3:112976191-112976192
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	chr3:112970765..112972828-chr3:112974570..112977015,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16860709	0.93[AFR][1000 genomes]
rs35536878	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57661011	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6792692	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624197	0.85[AMR][1000 genomes]
rs7642450	0.85[AMR][1000 genomes]
rs9682014	0.85[AMR][1000 genomes]
rs9682696	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:112968600-112980000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:112969600-112981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112969800-112991800	Weak transcription	Right Ventricle	heart
6	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
7	chr3:112970200-112981000	Weak transcription	Gastric	stomach
8	chr3:112970200-112981000	Weak transcription	Pancreas	Pancrea
9	chr3:112971200-112978200	Genic enhancers	Fetal Muscle Leg	muscle
10	chr3:112971800-112986400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:112972000-112980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:112972400-112986400	Weak transcription	Fetal Intestine Small	intestine
13	chr3:112972800-112976400	Enhancers	HSMMtube	muscle
14	chr3:112973400-112976400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:112973400-112981800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:112973400-112982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:112973400-112987600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:112973600-112977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:112973600-112978600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:112973600-112978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:112973600-112980400	Weak transcription	Brain Germinal Matrix	brain
22	chr3:112973600-112980400	Weak transcription	Fetal Kidney	kidney
23	chr3:112973600-112982000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:112973600-112983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:112973600-112993000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:112973600-112997200	Weak transcription	Colonic Mucosa	Colon
27	chr3:112973800-112977800	Weak transcription	Adipose Nuclei	Adipose
28	chr3:112973800-112977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:112973800-112978600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:112973800-112979400	Weak transcription	Aorta	Aorta
31	chr3:112973800-112979400	Weak transcription	Esophagus	oesophagus
32	chr3:112973800-112981200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:112973800-112981800	Weak transcription	Psoas Muscle	Psoas
34	chr3:112973800-112983400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:112974000-112979400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:112974000-112979600	Weak transcription	Fetal Brain Female	brain
37	chr3:112974200-112977000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:112974200-112977600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:112974200-112978000	Weak transcription	Ovary	ovary
40	chr3:112974200-112980200	Weak transcription	Fetal Brain Male	brain
41	chr3:112974200-112981000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:112974200-112981400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:112974200-112981800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:112974200-112994600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:112974600-112976600	Weak transcription	NHDF-Ad	bronchial
46	chr3:112974600-112976800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:112974600-112977200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:112974600-112977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:112974600-112978000	Weak transcription	Brain Angular Gyrus	brain
50	chr3:112974600-112981400	Weak transcription	Brain Anterior Caudate	brain

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