Variant report

Variant	rs80253984
Chromosome Location	chr2:133473706-133473707
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv834379	chr2:133471980-133665601	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv441785	chr2:133473528-133476565	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv821729	chr2:133473565-133476641	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133448600-133477000	Weak transcription	Fetal Stomach	stomach
2	chr2:133458000-133490000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:133460000-133479400	Weak transcription	Ovary	ovary
4	chr2:133468800-133485200	Weak transcription	Esophagus	oesophagus
5	chr2:133469200-133474400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133470600-133473800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133471200-133474000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:133473000-133474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:133473000-133474600	Enhancers	Brain Germinal Matrix	brain
10	chr2:133473000-133474800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:133473200-133474400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:133473200-133475000	Enhancers	Brain Anterior Caudate	brain
13	chr2:133473200-133475200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:133473400-133474800	Enhancers	Fetal Brain Male	brain
15	chr2:133473400-133477000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:133473600-133474000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:133473600-133477000	Weak transcription	Lung	lung
18	chr2:133473600-133481400	Weak transcription	Left Ventricle	heart
19	chr2:133473600-133491000	Weak transcription	Fetal Muscle Leg	muscle

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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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