Variant report

Variant	rs553261428
Chromosome Location	chr2:144718208-144718209
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144711849..144715713-chr2:144717627..144720875,3	K562	blood:
2	chr2:144685234..144688030-chr2:144717125..144719002,2	K562	blood:
3	chr2:144716711..144718634-chr2:144721830..144723917,3	K562	blood:

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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv962082	chr2:144718070-144728425	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:144700800-144719600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:144704600-144728800	Weak transcription	Spleen	Spleen
4	chr2:144704800-144719200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:144704800-144730800	Weak transcription	Left Ventricle	heart
6	chr2:144713400-144719600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:144713600-144719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:144713600-144719800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:144713600-144721000	Weak transcription	Fetal Lung	lung
10	chr2:144713600-144723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:144713600-144780000	Weak transcription	HSMMtube	muscle
12	chr2:144713800-144719800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:144713800-144725200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:144714800-144725000	Weak transcription	Psoas Muscle	Psoas
15	chr2:144715800-144720200	Weak transcription	Fetal Brain Male	brain
16	chr2:144717800-144719000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:144717800-144720000	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:144718000-144718800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:144718000-144719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:144718200-144719400	Weak transcription	NHEK	skin
21	chr2:144718200-144732000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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