Variant report

Variant	rs546129311
Chromosome Location	chr3:48316004-48316005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48312759..48319718-chr3:48469447..48473702,8	MCF-7	breast:
2	chr3:48314912..48317510-chr3:48470548..48472689,2	MCF-7	breast:
3	chr3:48313852..48317014-chr3:48476122..48479164,3	MCF-7	breast:
4	chr3:48313740..48316936-chr3:48317939..48320395,4	K562	blood:
5	chr3:48282587..48284198-chr3:48313959..48316882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164048	Chromatin interaction
ENSG00000164050	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv3428777	chr3:48314320-48319936	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48303000-48317400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:48305600-48318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:48308800-48316800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:48309400-48321000	Weak transcription	Right Atrium	heart
5	chr3:48309600-48317800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:48310800-48316400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:48310800-48316800	Weak transcription	HSMMtube	muscle
8	chr3:48310800-48330200	Weak transcription	Fetal Lung	lung
9	chr3:48311000-48333800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:48311200-48317400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:48311200-48317800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:48311200-48318000	Weak transcription	Gastric	stomach
13	chr3:48311200-48330800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:48311200-48334400	Weak transcription	Aorta	Aorta
15	chr3:48311400-48333400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:48311400-48334200	Weak transcription	Thymus	Thymus
17	chr3:48311600-48330800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:48311600-48334200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:48311600-48334200	Weak transcription	Liver	Liver
20	chr3:48311800-48316800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:48311800-48329800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:48312000-48316800	Weak transcription	HMEC	breast
23	chr3:48312000-48334400	Weak transcription	Brain Substantia Nigra	brain
24	chr3:48312200-48331000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:48312400-48320800	Weak transcription	GM12878-XiMat	blood
26	chr3:48312400-48330200	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:48312400-48334400	Weak transcription	Brain Angular Gyrus	brain
28	chr3:48312600-48316800	Weak transcription	NHEK	skin
29	chr3:48312600-48320400	Weak transcription	Primary T cells from cord blood	blood
30	chr3:48312600-48323600	Weak transcription	Spleen	Spleen
31	chr3:48312600-48333800	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:48312800-48317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:48312800-48328000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:48312800-48330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:48312800-48334400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:48313000-48316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:48313000-48316600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:48313000-48317600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:48313000-48330200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:48313000-48335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:48313200-48317600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:48313400-48330000	Weak transcription	Fetal Brain Female	brain
43	chr3:48313600-48316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:48313800-48330200	Weak transcription	Brain Germinal Matrix	brain
45	chr3:48313800-48330800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:48314000-48317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:48314000-48317400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:48314000-48330200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:48314000-48334200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:48314200-48322600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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