Variant report

Variant	rs73204053
Chromosome Location	chr12:116862684-116862685
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:116827133..116831140-chr12:116860978..116865806,7	MCF-7	breast:
2	chr12:116713061..116717108-chr12:116860033..116868382,13	MCF-7	breast:
3	chr12:116861189..116865677-chr12:116930751..116933434,4	MCF-7	breast:
4	chr12:116855904..116857605-chr12:116861971..116863958,2	MCF-7	breast:
5	chr12:116842396..116845943-chr12:116861127..116865065,6	MCF-7	breast:
6	chr12:116831911..116834064-chr12:116861978..116863486,2	MCF-7	breast:
7	chr12:116714988..116717524-chr12:116861718..116863964,2	MCF-7	breast:
8	chr12:116862474..116864567-chr12:116876098..116878521,3	MCF-7	breast:
9	chr12:116847212..116851109-chr12:116861228..116866038,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55668932	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56208649	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60047044	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60109929	0.84[ASN][1000 genomes]
rs73201961	0.81[ASN][1000 genomes]
rs73204026	0.82[ASN][1000 genomes]
rs73204034	0.84[ASN][1000 genomes]
rs73204040	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73204041	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73204046	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73204048	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73204049	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv973993	chr12:116861012-116874861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116854200-116864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:116854400-116863600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:116855000-116863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:116859000-116863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:116860200-116863000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:116860200-116863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:116860200-116864400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:116861000-116863600	Weak transcription	NHLF	lung
9	chr12:116861200-116864000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:116861400-116862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:116861400-116863000	Weak transcription	Placenta	Placenta
12	chr12:116861400-116863200	Weak transcription	Osteobl	bone
13	chr12:116861400-116863400	Weak transcription	NHDF-Ad	bronchial
14	chr12:116861400-116863600	Weak transcription	Ovary	ovary
15	chr12:116861400-116863800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:116861400-116863800	Weak transcription	Fetal Stomach	stomach
17	chr12:116861400-116864000	Weak transcription	Fetal Lung	lung
18	chr12:116861400-116864800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:116861600-116863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:116861600-116863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:116861600-116864200	Weak transcription	Fetal Intestine Large	intestine
22	chr12:116861800-116863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:116861800-116863600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:116862400-116863800	Enhancers	A549	lung
25	chr12:116862400-116865600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:116862400-116865800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:116862600-116863200	Weak transcription	Placenta Amnion	Placenta Amnion

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