Variant report

Variant	rs548346006
Chromosome Location	chr3:53744105-53744106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53409192..53409694-chr3:53743902..53744640,2	K562	blood:
2	chr3:53711180..53712168-chr3:53743924..53744920,6	MCF-7	breast:
3	chr3:53527140..53529678-chr3:53742465..53744402,2	MCF-7	breast:
4	chr3:53741820..53744207-chr3:53806615..53808159,2	MCF-7	breast:
5	chr3:53711186..53712122-chr3:53743953..53744837,3	MCF-7	breast:
6	chr3:53698054..53699675-chr3:53742176..53745087,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157388	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007655	chr3:53742148-53767689	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002452	chr3:53742148-53802811	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1000280	chr3:53742736-53770588	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53737400-53747800	Weak transcription	Fetal Brain Male	brain
3	chr3:53739800-53744400	Enhancers	Fetal Heart	heart
4	chr3:53740000-53744200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:53740200-53764400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:53740400-53745400	Weak transcription	Right Atrium	heart
7	chr3:53740600-53744200	Weak transcription	Brain Anterior Caudate	brain
8	chr3:53741000-53744600	Enhancers	Liver	Liver
9	chr3:53741200-53751400	Weak transcription	Fetal Brain Female	brain
10	chr3:53741800-53744400	Enhancers	Left Ventricle	heart
11	chr3:53742600-53744200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53742600-53744200	Weak transcription	HepG2	liver
13	chr3:53742600-53744800	Enhancers	A549	lung
14	chr3:53742600-53778000	Weak transcription	Pancreas	Pancrea
15	chr3:53743000-53744400	Enhancers	Right Ventricle	heart
16	chr3:53743400-53744600	Genic enhancers	Fetal Lung	lung
17	chr3:53743600-53744200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr3:53743800-53744200	Weak transcription	Lung	lung
19	chr3:53743800-53744400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:53743800-53744400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:53743800-53744600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:53744000-53744200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:53744000-53744200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr3:53744000-53744200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:53744000-53744200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:53744000-53744400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:53744000-53744400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:53744000-53744400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr3:53744000-53744400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:53744000-53744400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr3:53744000-53744400	Enhancers	Fetal Intestine Large	intestine
32	chr3:53744000-53744400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr3:53744000-53744400	Enhancers	Fetal Thymus	thymus
34	chr3:53744000-53744400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr3:53744000-53744400	Enhancers	Stomach Smooth Muscle	stomach
36	chr3:53744000-53744400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr3:53744000-53744600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:53744000-53744600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:53744000-53744600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr3:53744000-53744600	Enhancers	Primary B cells from peripheral blood	blood
41	chr3:53744000-53744600	Enhancers	Colon Smooth Muscle	Colon
42	chr3:53744000-53744600	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:53744000-53744600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:53744000-53744600	Enhancers	Fetal Intestine Small	intestine
45	chr3:53744000-53744600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr3:53744000-53744600	Enhancers	Stomach Mucosa	stomach
47	chr3:53744000-53744600	Enhancers	Spleen	Spleen
48	chr3:53744000-53744800	Enhancers	HUES48 Cell Line	embryonic stem cell

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