Variant report

Variant	rs193190005
Chromosome Location	chr2:48624359-48624360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:
2	chr2:48130775..48133582-chr2:48622856..48624453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:48619600-48624400	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:48623200-48624600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:48623200-48625600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:48623400-48624800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:48623600-48624800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:48623600-48625400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:48623600-48626800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:48623600-48626800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:48623600-48626800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:48623800-48624600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:48623800-48626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:48624000-48624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:48624000-48624600	Enhancers	Brain Germinal Matrix	brain
19	chr2:48624000-48624600	Enhancers	Fetal Brain Female	brain
20	chr2:48624000-48625000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:48624200-48624600	Flanking Active TSS	Fetal Brain Male	brain
22	chr2:48624200-48625000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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