Variant report

Variant	rs11047622
Chromosome Location	chr12:9009234-9009235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9009153-9009342	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
A2ML1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11047598	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11047623	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs11047727	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318927	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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	nsv1049949	chr12:9008609-9049198	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8987800-9012800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:8988200-9012800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:8994800-9016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:8998800-9014600	Weak transcription	Right Atrium	heart
9	chr12:8999000-9016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:9000800-9012400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:9001200-9010200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:9001200-9011600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:9005000-9013400	Weak transcription	Brain Anterior Caudate	brain
14	chr12:9005200-9017800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:9007400-9009600	Weak transcription	Esophagus	oesophagus
18	chr12:9008000-9011400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:9008200-9009400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:9009000-9011200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:9009200-9012800	Weak transcription	K562	blood

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