Variant report

Variant	rs11047953
Chromosome Location	chr12:9064923-9064924
allele	A/C
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	JUND	chr12:9064168-9064969	H1-hESC	embryonic stem cell:	n/a	chr12:9064292-9064301
2	CHD2	chr12:9064075-9064969	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr12:9064148-9064957	H1-hESC	embryonic stem cell:	n/a	chr12:9064294-9064303
4	TAF7	chr12:9064014-9067029	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr12:9064234-9069882	H1-hESC	embryonic stem cell:	n/a	chr12:9066956-9066965 chr12:9068258-9068267
6	BRCA1	chr12:9064494-9065407	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr12:9064155-9065010	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr12:9064255-9064950	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:9064191-9065063	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr12:9063586-9066984	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF7L2	chr12:9064859-9065093	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:9063955-9067842	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9064351..9068260-chr12:9100706..9102986,3	MCF-7	breast:
2	chr12:9062610..9065095-chr12:9066139..9068136,2	MCF-7	breast:

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction
ENSG00000111752	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1049925	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1073159	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1073160	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10842537	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048023	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11048190	0.84[EUR][1000 genomes]
rs11048195	0.84[EUR][1000 genomes]
rs11048264	0.82[EUR][1000 genomes]
rs11048337	0.82[EUR][1000 genomes]
rs11048338	0.82[EUR][1000 genomes]
rs11048344	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11048345	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1124402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11611106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11613242	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11613650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11614970	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12371786	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12422905	0.82[EUR][1000 genomes]
rs12423746	0.82[EUR][1000 genomes]
rs12423817	0.84[EUR][1000 genomes]
rs12424026	0.83[EUR][1000 genomes]
rs12812913	0.84[EUR][1000 genomes]
rs12814670	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815310	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12821842	0.84[EUR][1000 genomes]
rs12823100	0.84[EUR][1000 genomes]
rs12833375	0.82[EUR][1000 genomes]
rs1476911	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1805724	0.84[EUR][1000 genomes]
rs1805732	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1805733	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1805736	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805737	0.89[EUR][1000 genomes]
rs1805745	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805761	0.86[EUR][1000 genomes]
rs1805765	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1805784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041624	0.84[EUR][1000 genomes]
rs2041625	0.82[EUR][1000 genomes]
rs2110193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2159961	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2377672	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2377673	0.82[EUR][1000 genomes]
rs2377674	0.82[EUR][1000 genomes]
rs34798934	0.83[EUR][1000 genomes]
rs4309200	0.82[EUR][1000 genomes]
rs6487462	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7299653	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300767	0.82[EUR][1000 genomes]
rs7301381	0.82[EUR][1000 genomes]
rs7302417	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7303776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7306161	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306165	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7309922	0.83[EUR][1000 genomes]
rs7311483	0.87[ASN][1000 genomes]
rs7311561	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7315055	0.81[EUR][1000 genomes]
rs7957321	0.82[EUR][1000 genomes]
rs933462	0.82[EUR][1000 genomes]

No data

Chromatin state (count:44 , 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	chr12:9059800-9065200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:9060400-9065600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:9060400-9065600	Weak transcription	Fetal Thymus	thymus
6	chr12:9060400-9066000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:9060600-9065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:9062400-9065600	Enhancers	Fetal Heart	heart
9	chr12:9062600-9066000	Weak transcription	Right Ventricle	heart
10	chr12:9063600-9065600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:9063600-9066400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:9063800-9065200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:9063800-9069600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:9064000-9065600	Enhancers	Fetal Lung	lung
15	chr12:9064200-9065400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:9064200-9065600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:9064200-9065800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:9064200-9065800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:9064400-9065000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:9064400-9065200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:9064400-9065200	Enhancers	Brain Germinal Matrix	brain
22	chr12:9064400-9065200	Weak transcription	Fetal Kidney	kidney
23	chr12:9064400-9065400	Weak transcription	Fetal Intestine Large	intestine
24	chr12:9064400-9065600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:9064400-9065800	Enhancers	NHEK	skin
26	chr12:9064600-9065000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:9064600-9065000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:9064600-9065000	Enhancers	NHLF	lung
29	chr12:9064600-9065400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:9064600-9065400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:9064600-9065600	Weak transcription	Primary T cells from cord blood	blood
32	chr12:9064600-9066000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:9064600-9066000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:9064600-9066000	Enhancers	HMEC	breast
35	chr12:9064600-9070200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr12:9064800-9065200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:9064800-9065200	Enhancers	Fetal Brain Female	brain
38	chr12:9064800-9066000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:9064800-9066000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:9064800-9066200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:9064800-9066200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:9064800-9066200	Weak transcription	Thymus	Thymus
43	chr12:9064800-9069400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:9064800-9069600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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