Variant report

Variant	rs117407275
Chromosome Location	chr1:45019995-45019996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45018991..45021425-chr1:45022454..45025232,2	K562	blood:
2	chr1:45009148..45011626-chr1:45017945..45020473,2	K562	blood:

Variant related genes	Relation type
ENSG00000263381	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
8	esv3452245	chr1:45019365-45023963	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45022000	Weak transcription	HepG2	liver
2	chr1:45009600-45021200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:45012000-45023200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:45012400-45023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:45012800-45021600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:45012800-45023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:45015600-45020800	Enhancers	Brain Substantia Nigra	brain
9	chr1:45017600-45020800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:45017800-45021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:45017800-45023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
13	chr1:45018600-45020000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:45018600-45020000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:45018600-45020000	Enhancers	Hela-S3	cervix
16	chr1:45018600-45020400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:45018600-45020600	Enhancers	HSMM	muscle
18	chr1:45018600-45021000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:45018600-45021000	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:45018600-45021400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:45018800-45020400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:45018800-45021200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:45019000-45020400	Enhancers	NHDF-Ad	bronchial
24	chr1:45019000-45020600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:45019200-45020400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:45019200-45020400	Enhancers	Osteobl	bone
27	chr1:45019200-45020800	Enhancers	Brain Angular Gyrus	brain
28	chr1:45019200-45021000	Enhancers	Brain Anterior Caudate	brain
29	chr1:45019200-45021400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:45019400-45020000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:45019400-45020400	Flanking Active TSS	HMEC	breast
32	chr1:45019400-45021000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:45019600-45020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:45019600-45020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:45019600-45020400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:45019600-45020600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:45019600-45020600	Enhancers	HSMMtube	muscle
38	chr1:45019600-45021000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:45019600-45023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:45019800-45020000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:45019800-45020000	Bivalent Enhancer	Placenta	Placenta
42	chr1:45019800-45020200	Enhancers	A549	lung
43	chr1:45019800-45020600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:45019800-45021000	Flanking Active TSS	NHEK	skin
45	chr1:45019800-45023200	Weak transcription	NH-A	brain

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