Variant report

Variant	rs2954111
Chromosome Location	chr12:122134415-122134416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122133700..122136564-chr12:122230848..122233714,3	K562	blood:
2	chr12:122133742..122136740-chr12:122185481..122187047,2	MCF-7	breast:
3	chr12:122134034..122138136-chr12:122226162..122228726,3	MCF-7	breast:
4	chr12:122125224..122127960-chr12:122132175..122134959,2	K562	blood:
5	chr12:122129486..122132177-chr12:122133485..122135304,3	K562	blood:
6	chr12:122129949..122131522-chr12:122133485..122135302,2	K562	blood:
7	chr12:122134190..122135735-chr12:122208204..122211190,2	K562	blood:
8	chr12:122133698..122135297-chr12:122212832..122215670,2	MCF-7	breast:

No data

No data

No data

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

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

rs_ID	r²[population]
rs10770192	0.87[AMR][1000 genomes]
rs10840612	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11043180	0.87[ASN][1000 genomes]
rs2137434	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2458402	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2466145	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2720024	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2720041	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2942370	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2954112	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967415	0.93[ASN][1000 genomes]
rs925531	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122125400-122135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:122125600-122135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:122129400-122135000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:122129400-122139800	Weak transcription	A549	lung
8	chr12:122129600-122135200	Weak transcription	Osteobl	bone

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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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