Variant report

Variant	rs139367309
Chromosome Location	chr1:95006749-95006750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95001173..95003691-chr1:95006398..95009153,2	MCF-7	breast:
2	chr1:95004121..95007110-chr1:95017554..95021316,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117525	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3437143	chr1:95006189-95008737	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95001600-95007400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:95001600-95007800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:95001800-95007000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:95001800-95007800	Active TSS	Brain Hippocampus Middle	brain
5	chr1:95002800-95006800	Transcr. at gene 5' and 3'	NHEK	skin
6	chr1:95002800-95007200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:95002800-95007600	Active TSS	Brain Anterior Caudate	brain
8	chr1:95003000-95007800	Active TSS	Right Atrium	heart
9	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
10	chr1:95003200-95007800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:95003200-95007800	Active TSS	Fetal Intestine Large	intestine
12	chr1:95003800-95007600	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:95003800-95007800	Active TSS	Brain Cingulate Gyrus	brain
14	chr1:95004000-95006800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:95004200-95006800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:95004200-95008800	Active TSS	Ovary	ovary
17	chr1:95004400-95007800	Active TSS	Left Ventricle	heart
18	chr1:95004400-95007800	Active TSS	Right Ventricle	heart
19	chr1:95004400-95007800	Active TSS	NH-A	brain
20	chr1:95004400-95008200	Active TSS	Pancreas	Pancrea
21	chr1:95004600-95007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:95004800-95006800	Bivalent/Poised TSS	Thymus	Thymus
23	chr1:95004800-95007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:95004800-95007800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:95005400-95007600	Active TSS	Duodenum Mucosa	Duodenum
26	chr1:95005400-95007800	Active TSS	HSMMtube	muscle
27	chr1:95005400-95008000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:95005400-95008000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr1:95005400-95008000	Active TSS	Stomach Mucosa	stomach
30	chr1:95005400-95008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:95005600-95006800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:95005600-95006800	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr1:95005600-95007800	Active TSS	Fetal Heart	heart
34	chr1:95005600-95008200	Active TSS	NHDF-Ad	bronchial
35	chr1:95005600-95008800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:95005800-95007000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:95005800-95008000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:95005800-95008000	Active TSS	Brain Substantia Nigra	brain
39	chr1:95005800-95008200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:95005800-95008600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:95006000-95006800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:95006000-95006800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr1:95006000-95007600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:95006000-95007600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:95006000-95007600	Active TSS	Hela-S3	cervix
46	chr1:95006000-95007800	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:95006200-95006800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:95006200-95006800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr1:95006200-95006800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:95006200-95006800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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