Variant report

Variant	rs550407402
Chromosome Location	chr2:55717695-55717696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55641621..55644231-chr2:55715263..55717892,2	K562	blood:
2	chr2:55716414..55718011-chr2:55844321..55846630,2	K562	blood:
3	chr2:55716556..55719523-chr2:55721485..55723403,3	K562	blood:
4	chr2:55709620..55711839-chr2:55714950..55717947,2	K562	blood:
5	chr2:55716556..55719523-chr2:55720351..55723403,5	K562	blood:
6	chr2:55714333..55716529-chr2:55717522..55719586,2	K562	blood:

Variant related genes	Relation type
ENSG00000272606	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55715000-55717800	Weak transcription	K562	blood
2	chr2:55717000-55717800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:55717000-55718000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:55717000-55718200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:55717000-55718400	Enhancers	Brain Substantia Nigra	brain
6	chr2:55717000-55718800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:55717200-55718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:55717200-55718200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:55717400-55717800	Weak transcription	NHEK	skin
10	chr2:55717400-55718000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:55717400-55718000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:55717400-55718000	Enhancers	NHLF	lung
13	chr2:55717400-55718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:55717400-55718400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:55717400-55718600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:55717600-55718000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:55717600-55718000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:55717600-55718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:55717600-55718000	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:55717600-55718600	Enhancers	Brain Inferior Temporal Lobe	brain

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