Variant report

Variant	rs529205244
Chromosome Location	chr7:66148439-66148440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66145930..66148922-chr7:66213233..66215140,2	MCF-7	breast:
2	chr7:66147345..66148941-chr7:66150960..66153085,3	K562	blood:
3	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
4	chr7:66145819..66148736-chr7:66203770..66205462,3	MCF-7	breast:
5	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:

Variant related genes	Relation type
ENSG00000272831	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000154710	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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv970870	chr7:66147890-66158166	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66146000-66148800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:66146000-66149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:66146200-66148600	Active TSS	Rectal Smooth Muscle	rectum
4	chr7:66146200-66148600	Active TSS	GM12878-XiMat	blood
5	chr7:66146200-66149000	Active TSS	HSMM	muscle
6	chr7:66146400-66148600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:66146400-66148600	Active TSS	HSMMtube	muscle
8	chr7:66146400-66148800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:66146400-66149000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:66146400-66149000	Active TSS	NHDF-Ad	bronchial
11	chr7:66146400-66149000	Active TSS	NHLF	lung
12	chr7:66146400-66149400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:66146600-66148800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:66146600-66148800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:66146600-66148800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:66146800-66148600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:66147600-66148600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:66147600-66148800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:66147600-66149200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:66147800-66149000	Weak transcription	Small Intestine	intestine
21	chr7:66148000-66148600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:66148000-66148600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:66148000-66148600	Enhancers	Fetal Brain Male	brain
24	chr7:66148000-66148600	Enhancers	Fetal Lung	lung
25	chr7:66148000-66148600	Flanking Active TSS	Hela-S3	cervix
26	chr7:66148000-66148800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:66148000-66149000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:66148000-66149000	Enhancers	Thymus	Thymus
29	chr7:66148000-66149200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:66148000-66149200	Flanking Active TSS	NHEK	skin
31	chr7:66148000-66149800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr7:66148000-66157200	Weak transcription	Spleen	Spleen
33	chr7:66148000-66157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:66148000-66161800	Weak transcription	Left Ventricle	heart
35	chr7:66148000-66161800	Weak transcription	Right Atrium	heart
36	chr7:66148000-66165600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:66148000-66177600	Weak transcription	Aorta	Aorta
38	chr7:66148200-66148600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:66148200-66148600	Enhancers	Brain Angular Gyrus	brain
40	chr7:66148200-66148600	Enhancers	Brain Anterior Caudate	brain
41	chr7:66148200-66148600	Flanking Active TSS	HepG2	liver
42	chr7:66148200-66148600	Flanking Active TSS	HMEC	breast
43	chr7:66148200-66148600	Flanking Active TSS	Osteobl	bone
44	chr7:66148200-66148800	Weak transcription	Lung	lung
45	chr7:66148200-66148800	Weak transcription	Ovary	ovary
46	chr7:66148200-66149200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:66148200-66149600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:66148200-66149600	Enhancers	Liver	Liver
49	chr7:66148200-66149600	Enhancers	K562	blood
50	chr7:66148200-66149800	Enhancers	Pancreas	Pancrea

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