Variant report

Variant	rs12297528
Chromosome Location	chr12:44553234-44553235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44552692..44555672-chr12:44555783..44557348,2	K562	blood:
2	chr12:44550647..44552515-chr12:44553138..44554864,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11182425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297184	1.00[AMR][1000 genomes]
rs12303013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304524	1.00[AMR][1000 genomes]
rs12305063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306297	1.00[AMR][1000 genomes]
rs12309109	1.00[AMR][1000 genomes]
rs12311205	1.00[AMR][1000 genomes]
rs12311262	1.00[AMR][1000 genomes]
rs12312664	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314835	1.00[AMR][1000 genomes]
rs12316922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319132	0.90[AFR][1000 genomes];1.00[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44530800-44573200	Weak transcription	Pancreas	Pancrea
3	chr12:44534800-44573000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44539600-44553800	Weak transcription	Aorta	Aorta
5	chr12:44547000-44554200	Enhancers	Fetal Heart	heart
6	chr12:44547200-44554400	Weak transcription	Left Ventricle	heart
7	chr12:44548200-44556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:44551800-44554000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:44551800-44554000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:44552000-44553600	Enhancers	HepG2	liver
11	chr12:44552000-44554000	Enhancers	Fetal Brain Female	brain
12	chr12:44552600-44553400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:44552600-44553400	Enhancers	Brain Germinal Matrix	brain
14	chr12:44552600-44553600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:44552600-44553600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:44552600-44553600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:44552600-44553800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:44552600-44553800	Enhancers	Liver	Liver
19	chr12:44552600-44554000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:44552600-44554200	Enhancers	Fetal Brain Male	brain
21	chr12:44552800-44553400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:44552800-44553400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:44552800-44553600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:44552800-44553800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:44553000-44553400	Active TSS	Pancreatic Islets	Pancreatic Islet

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