Variant report

Variant	rs565998986
Chromosome Location	chr3:53742698-53742699
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53527140..53529678-chr3:53742465..53744402,2	MCF-7	breast:
2	chr3:53741820..53744207-chr3:53806615..53808159,2	MCF-7	breast:
3	chr3:53711493..53712139-chr3:53742078..53742918,2	MCF-7	breast:
4	chr3:53698054..53699675-chr3:53742176..53745087,2	MCF-7	breast:
5	chr3:53740542..53743254-chr3:53751040..53753856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157388	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	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

No data

Chromatin state (count:33 , 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	chr3:53723200-53743400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:53726600-53744000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:53726800-53743400	Weak transcription	Spleen	Spleen
5	chr3:53736800-53744000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:53737400-53747800	Weak transcription	Fetal Brain Male	brain
7	chr3:53738800-53744000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:53739000-53743400	Enhancers	Fetal Lung	lung
9	chr3:53739800-53742800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr3:53739800-53744400	Enhancers	Fetal Heart	heart
11	chr3:53740000-53744200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:53740200-53743000	Weak transcription	Right Ventricle	heart
13	chr3:53740200-53764400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:53740400-53745400	Weak transcription	Right Atrium	heart
15	chr3:53740600-53744000	Weak transcription	Fetal Thymus	thymus
16	chr3:53740600-53744200	Weak transcription	Brain Anterior Caudate	brain
17	chr3:53741000-53744600	Enhancers	Liver	Liver
18	chr3:53741200-53743200	Enhancers	Fetal Intestine Small	intestine
19	chr3:53741200-53743800	Enhancers	Lung	lung
20	chr3:53741200-53751400	Weak transcription	Fetal Brain Female	brain
21	chr3:53741400-53742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:53741400-53743800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:53741600-53742800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:53741600-53743000	Enhancers	Fetal Intestine Large	intestine
25	chr3:53741800-53744400	Enhancers	Left Ventricle	heart
26	chr3:53742400-53743000	Weak transcription	Primary B cells from cord blood	blood
27	chr3:53742600-53743600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:53742600-53744000	Weak transcription	Stomach Mucosa	stomach
29	chr3:53742600-53744000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:53742600-53744200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:53742600-53744200	Weak transcription	HepG2	liver
32	chr3:53742600-53744800	Enhancers	A549	lung
33	chr3:53742600-53778000	Weak transcription	Pancreas	Pancrea

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