Variant report

Variant	rs375748080
Chromosome Location	chr2:54673595-54673596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3364035	chr2:54673580-54676508	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54668600-54682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:54673200-54673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:54673200-54673800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:54673200-54674000	Enhancers	Brain Angular Gyrus	brain
5	chr2:54673200-54674000	Enhancers	Brain Substantia Nigra	brain
6	chr2:54673200-54674000	Enhancers	Fetal Heart	heart
7	chr2:54673200-54674200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:54673200-54674600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:54673400-54673600	Enhancers	Left Ventricle	heart
10	chr2:54673400-54673600	Enhancers	Lung	lung
11	chr2:54673400-54673800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:54673400-54674000	Enhancers	Brain Anterior Caudate	brain
13	chr2:54673400-54674000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:54673400-54674000	Enhancers	Fetal Thymus	thymus
15	chr2:54673400-54674000	Enhancers	Right Atrium	heart
16	chr2:54673400-54674000	Flanking Active TSS	HepG2	liver
17	chr2:54673400-54674200	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:54673400-54674400	Enhancers	HSMMtube	muscle

Quick Search:

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

what's new

Quick links