Variant report

Variant	rs554748712
Chromosome Location	chr7:124366586-124366587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1802433	chr7:124365503-124385252	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124363800-124368800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:124364800-124369600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:124365400-124370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:124365600-124367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124365600-124368600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:124365800-124369200	Enhancers	Brain Substantia Nigra	brain
7	chr7:124365800-124370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:124366000-124366600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:124366000-124366600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:124366000-124368200	Enhancers	Brain Anterior Caudate	brain
11	chr7:124366000-124368800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:124366000-124369000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:124366400-124368000	Enhancers	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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