Variant report

Variant	rs117699827
Chromosome Location	chr7:66148171-66148172
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	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
4	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
5	chr7:66145819..66148736-chr7:66203770..66205462,3	MCF-7	breast:
6	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000272831	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66146000-66148200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:66146000-66148400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:66146000-66148400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:66146000-66148400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:66146000-66148800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:66146000-66149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:66146200-66148200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:66146200-66148200	Active TSS	Psoas Muscle	Psoas
9	chr7:66146200-66148400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:66146200-66148600	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:66146200-66148600	Active TSS	GM12878-XiMat	blood
12	chr7:66146200-66149000	Active TSS	HSMM	muscle
13	chr7:66146400-66148200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:66146400-66148200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:66146400-66148200	Active TSS	Fetal Kidney	kidney
16	chr7:66146400-66148200	Active TSS	Gastric	stomach
17	chr7:66146400-66148200	Active TSS	Ovary	ovary
18	chr7:66146400-66148200	Active TSS	A549	lung
19	chr7:66146400-66148400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:66146400-66148400	Active TSS	Esophagus	oesophagus
21	chr7:66146400-66148600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:66146400-66148600	Active TSS	HSMMtube	muscle
23	chr7:66146400-66148800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:66146400-66149000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:66146400-66149000	Active TSS	NHDF-Ad	bronchial
26	chr7:66146400-66149000	Active TSS	NHLF	lung
27	chr7:66146400-66149400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:66146600-66148200	Active TSS	Brain Anterior Caudate	brain
29	chr7:66146600-66148200	Active TSS	Colonic Mucosa	Colon
30	chr7:66146600-66148200	Active TSS	Colon Smooth Muscle	Colon
31	chr7:66146600-66148200	Active TSS	Duodenum Mucosa	Duodenum
32	chr7:66146600-66148200	Active TSS	Lung	lung
33	chr7:66146600-66148400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:66146600-66148400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:66146600-66148400	Active TSS	Right Ventricle	heart
36	chr7:66146600-66148800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:66146600-66148800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:66146600-66148800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:66146800-66148200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:66146800-66148600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:66147200-66148200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr7:66147400-66148200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr7:66147400-66148200	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr7:66147400-66148200	Flanking Active TSS	Placenta	Placenta
45	chr7:66147400-66148400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr7:66147400-66148400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr7:66147600-66148200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:66147600-66148200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:66147600-66148200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:66147600-66148200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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