Variant report

Variant	rs559733785
Chromosome Location	chr2:55172428-55172429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55164941..55167851-chr2:55169428..55172697,4	K562	blood:
2	chr2:55171297..55173305-chr2:55180645..55183398,2	K562	blood:
3	chr15:90568357..90570526-chr2:55172089..55173609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3393792	chr2:55171448-55173496	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3355243	chr2:55171898-55172946	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3385326	chr2:55172272-55172474	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55166200-55172800	Weak transcription	Gastric	stomach
2	chr2:55168600-55172600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:55168800-55193400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:55169000-55172600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:55169000-55172600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:55169000-55172600	Weak transcription	Pancreas	Pancrea
7	chr2:55169000-55172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:55169600-55172600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:55169800-55172600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:55169800-55172600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:55169800-55172800	Weak transcription	Esophagus	oesophagus
12	chr2:55170000-55172800	Weak transcription	Lung	lung
13	chr2:55170400-55190400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:55170600-55172800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:55170800-55172600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:55171400-55172600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:55172200-55172600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:55172200-55172600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:55172200-55174200	Enhancers	Brain Hippocampus Middle	brain
20	chr2:55172400-55172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:55172400-55172600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:55172400-55172600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:55172400-55172600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:55172400-55172600	Enhancers	Brain Anterior Caudate	brain
25	chr2:55172400-55172600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:55172400-55172600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:55172400-55172600	Enhancers	HepG2	liver
28	chr2:55172400-55172600	Flanking Active TSS	HSMM	muscle
29	chr2:55172400-55172800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:55172400-55173800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:55172400-55173800	Enhancers	HMEC	breast
32	chr2:55172400-55173800	Enhancers	NHLF	lung
33	chr2:55172400-55174000	Enhancers	NHDF-Ad	bronchial
34	chr2:55172400-55174200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:55172400-55174400	Enhancers	Brain Angular Gyrus	brain
36	chr2:55172400-55175400	Enhancers	Fetal Brain Male	brain
37	chr2:55172400-55175600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:55172400-55176000	Enhancers	Fetal Muscle Leg	muscle

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