Variant report

Variant	rs12614603
Chromosome Location	chr2:11084785-11084786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12328192	0.83[EUR][1000 genomes]
rs12620687	0.98[EUR][1000 genomes]
rs16856924	0.93[EUR][1000 genomes]
rs2084927	0.83[EUR][1000 genomes]
rs60253877	0.83[EUR][1000 genomes]
rs6711653	0.93[ASN][1000 genomes]
rs73917610	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv469438	chr2:11055298-11085744	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv580970	chr2:11055298-11085744	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11076600-11087600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11079800-11087200	Weak transcription	A549	lung
3	chr2:11080800-11092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:11081400-11104600	Weak transcription	Right Atrium	heart
5	chr2:11083200-11086200	Weak transcription	Fetal Brain Male	brain

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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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