Variant report

Variant	rs116448911
Chromosome Location	chr1:212999073-212999074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv549149	chr1:212997385-213009657	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
5	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:212997200-213000200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr1:212997400-212999600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212998600-212999200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212998600-212999400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:212998600-212999600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:212998600-212999600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:212998600-212999800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:212998600-212999800	ZNF genes & repeats	HepG2	liver
11	chr1:212998600-212999800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr1:212998800-212999800	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr1:212998800-212999800	ZNF genes & repeats	Stomach Mucosa	stomach
14	chr1:212999000-212999400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr1:212999000-212999800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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