Variant report

Variant	rs12308647
Chromosome Location	chr12:9063824-9063825
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	GTF2F1	chr12:9063759-9063949	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr12:9063586-9066984	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9062631..9064350-chr12:9064613..9067412,2	MCF-7	breast:
2	chr12:9062610..9065095-chr12:9066139..9068136,2	MCF-7	breast:

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000111752	Chromatin interaction

rs_ID	r²[population]
rs10047511	1.00[AMR][1000 genomes]
rs11047861	1.00[AMR][1000 genomes]
rs11048285	1.00[AMR][1000 genomes]
rs12297064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321220	0.93[AFR][1000 genomes]
rs12321827	1.00[AMR][1000 genomes]
rs12322201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9050800-9065600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:9058800-9065400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:9059400-9064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:9059800-9065200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:9060000-9064200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:9060000-9064600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:9060400-9064000	Weak transcription	Fetal Lung	lung
8	chr12:9060400-9064200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:9060400-9065600	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:9060400-9065600	Weak transcription	Fetal Thymus	thymus
11	chr12:9060400-9066000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:9060600-9065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:9061400-9064200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:9062000-9064600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:9062400-9064000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:9062400-9065600	Enhancers	Fetal Heart	heart
17	chr12:9062600-9066000	Weak transcription	Right Ventricle	heart
18	chr12:9062800-9064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:9063000-9064400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:9063400-9064600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:9063600-9064600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:9063600-9064600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:9063600-9065600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:9063600-9066400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:9063800-9064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:9063800-9064600	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:9063800-9064800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:9063800-9065200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:9063800-9069600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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