Variant report

Variant	rs73278045
Chromosome Location	chr12:41866929-41866930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17129355	1.00[AMR][1000 genomes]
rs17129383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129387	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129395	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129414	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59252906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66892773	0.83[AFR][1000 genomes]
rs73278051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278074	1.00[AMR][1000 genomes]
rs73278076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41860200-41869200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41861400-41870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:41861400-41870400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:41862000-41869800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:41862000-41870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:41862200-41869400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:41866400-41867400	Active TSS	Fetal Intestine Large	intestine
8	chr12:41866400-41867400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:41866400-41867800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:41866600-41867000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:41866600-41867200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:41866600-41867400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:41866800-41870400	Weak transcription	ES-UCSF4 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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