Variant report

Variant	rs546354586
Chromosome Location	chr12:48026331-48026332
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47955362..47958310-chr12:48025284..48027406,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3419735	chr12:48025385-48030183	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3427669	chr12:48025635-48029333	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3422936	chr12:48026085-48029083	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47998800-48030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
3	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
4	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:48007600-48028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:48007600-48032000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:48007600-48037600	Weak transcription	Left Ventricle	heart
8	chr12:48008400-48029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48008600-48033400	Weak transcription	Pancreas	Pancrea
10	chr12:48009000-48032200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:48009800-48036200	Weak transcription	Ovary	ovary
12	chr12:48010200-48027800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:48011600-48029600	Weak transcription	HSMM	muscle
14	chr12:48013000-48029000	Weak transcription	Primary B cells from cord blood	blood
15	chr12:48014600-48029200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:48014800-48030600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:48016000-48044400	Weak transcription	NH-A	brain
19	chr12:48018000-48036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:48018600-48029000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:48018800-48028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:48018800-48029000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:48018800-48030600	Weak transcription	Fetal Stomach	stomach
24	chr12:48020000-48027400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:48020800-48029800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:48021200-48028200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:48023000-48030400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:48023600-48044800	Weak transcription	Gastric	stomach
29	chr12:48024000-48028400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:48024000-48028800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:48024400-48026400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:48024400-48028800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:48024600-48026400	Strong transcription	A549	lung
34	chr12:48024800-48030600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:48025000-48030800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:48025200-48036000	Weak transcription	Fetal Lung	lung
37	chr12:48025600-48032000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:48025600-48032200	Weak transcription	Primary T cells from cord blood	blood
39	chr12:48025800-48026400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr12:48025800-48027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:48025800-48027400	Weak transcription	Adipose Nuclei	Adipose
42	chr12:48025800-48029800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:48025800-48030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:48025800-48032400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:48026000-48029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:48026200-48029000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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