Variant report

Variant	rs12022973
Chromosome Location	chr1:151465996-151465997
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151254003..151256272-chr1:151463468..151466051,2	MCF-7	breast:
2	chr1:151465693..151469281-chr1:151809820..151814205,4	MCF-7	breast:
3	1:151411623-151426875..1:151461759-151468043	Hela-S3	cervix:
4	chr1:151464854..151467789-chr1:151473265..151475428,2	K562	blood:
5	chr1:151436153..151438229-chr1:151463732..151466484,2	K562	blood:
6	1:151461759-151468043..1:151516085-151535167	Hela-S3	cervix:
7	chr1:151430347..151433120-chr1:151465110..151469553,7	MCF-7	breast:
8	chr1:151463912..151470062-chr1:151482602..151487656,8	MCF-7	breast:
9	1:151461759-151468043..1:151618750-151636526	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000143367	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction

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

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

rs_ID	r²[population]
rs11801161	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11809182	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12046420	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12240190	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2878950	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs35350499	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6661111	0.84[EUR][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151459400-151468200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:151464200-151466600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:151464400-151466400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:151465000-151467200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:151465000-151467200	Weak transcription	GM12878-XiMat	blood
6	chr1:151465000-151467200	Weak transcription	HepG2	liver
7	chr1:151465000-151471000	Weak transcription	K562	blood
8	chr1:151465800-151466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:151465800-151467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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