Variant report

Variant	rs532278177
Chromosome Location	chr1:153753093-153753094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153752474..153754090-chr1:153754939..153756704,2	K562	blood:
2	chr1:153752661..153757715-chr1:153961416..153965311,5	K562	blood:
3	chr1:153642593..153645461-chr1:153752346..153754294,2	K562	blood:
4	chr1:153752949..153756283-chr1:153940484..153942451,4	MCF-7	breast:
5	chr1:153752145..153754136-chr1:153769576..153771795,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143578	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv515962	chr1:153752139-153773429	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153747000-153755400	Weak transcription	Dnd41	blood
2	chr1:153748800-153755400	Weak transcription	HSMM	muscle
3	chr1:153749000-153755400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:153749000-153755400	Weak transcription	Fetal Kidney	kidney
5	chr1:153749000-153755400	Weak transcription	Thymus	Thymus
6	chr1:153749000-153755600	Enhancers	Pancreas	Pancrea
7	chr1:153749000-153755600	Weak transcription	NH-A	brain
8	chr1:153749200-153753800	Enhancers	Right Ventricle	heart
9	chr1:153749200-153755200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:153749200-153755400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:153749200-153755400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:153749200-153755400	Weak transcription	Primary T cells from cord blood	blood
13	chr1:153749200-153755400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:153749200-153755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:153749200-153755400	Weak transcription	NHDF-Ad	bronchial
16	chr1:153749200-153755400	Weak transcription	NHLF	lung
17	chr1:153749200-153755600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:153749200-153755600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:153749200-153755600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:153749400-153755400	Weak transcription	Fetal Brain Female	brain
21	chr1:153749400-153755400	Weak transcription	NHEK	skin
22	chr1:153749600-153753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:153749600-153753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:153749600-153755000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:153749600-153755200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:153749600-153755200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:153749600-153755400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:153749600-153755400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:153749600-153755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:153749600-153755400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:153749600-153755600	Weak transcription	Brain Substantia Nigra	brain
32	chr1:153749800-153753200	Enhancers	K562	blood
33	chr1:153749800-153754600	Weak transcription	Hela-S3	cervix
34	chr1:153749800-153755400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:153749800-153755400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:153749800-153755400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:153749800-153755400	Weak transcription	Fetal Brain Male	brain
38	chr1:153749800-153755400	Weak transcription	GM12878-XiMat	blood
39	chr1:153749800-153755600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:153750000-153755400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:153750000-153755400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:153750200-153755400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:153750400-153753200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:153750400-153755400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:153750400-153755400	Weak transcription	Brain Anterior Caudate	brain
46	chr1:153750400-153755400	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:153750400-153755400	Weak transcription	Colonic Mucosa	Colon
48	chr1:153750400-153755600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:153750400-153755600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:153750600-153754600	Weak transcription	Primary T cells fromperipheralblood	blood

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