Variant report

Variant	rs542016798
Chromosome Location	chr6:147230727-147230728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
2	chr6:147229321..147232231-chr6:147553682..147556359,2	K562	blood:
3	chr6:147230413..147232261-chr6:147234463..147236812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2760996	chr6:147229457-147269633	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147224000-147233600	Weak transcription	HSMM	muscle
2	chr6:147225200-147233600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:147225400-147233600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:147226800-147231600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:147226800-147233200	Weak transcription	A549	lung
6	chr6:147226800-147233800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:147227000-147231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:147227000-147231400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:147227000-147231800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:147227000-147231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:147227000-147233000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:147227000-147233000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:147227000-147235000	Weak transcription	Fetal Lung	lung
14	chr6:147227000-147235000	Weak transcription	Right Atrium	heart
15	chr6:147227200-147231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:147227400-147231600	Weak transcription	NHDF-Ad	bronchial
17	chr6:147227400-147231800	Weak transcription	Osteobl	bone
18	chr6:147227400-147232800	Weak transcription	Hela-S3	cervix
19	chr6:147227400-147233600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:147227800-147233800	Weak transcription	HMEC	breast
21	chr6:147228000-147234400	Weak transcription	Fetal Kidney	kidney
22	chr6:147229200-147234000	Enhancers	K562	blood
23	chr6:147229800-147231400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:147229800-147231600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:147230200-147231400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:147230400-147231000	Enhancers	Fetal Intestine Small	intestine
27	chr6:147230400-147232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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