Variant report

Variant	rs73130645
Chromosome Location	chr12:41869648-41869649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs66892773	0.93[EUR][1000 genomes]
rs73115857	1.00[AFR][1000 genomes]
rs73118197	1.00[AFR][1000 genomes]
rs73124829	1.00[AFR][1000 genomes]
rs73126876	1.00[AFR][1000 genomes]
rs73130641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs983194	1.00[AFR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41861400-41870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:41861400-41870400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:41862000-41869800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:41862000-41870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:41866800-41870400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:41867800-41870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:41868000-41869800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:41868000-41871200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:41868400-41870400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:41869400-41871200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:41869600-41871400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:41869600-41871400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:41869600-41871600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon

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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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