Variant report

Variant	rs10842537
Chromosome Location	chr12:9066158-9066159
allele	C/T
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	MXI1	chr12:9065508-9067028	H1-hESC	embryonic stem cell:	n/a	chr12:9066967-9066982 chr12:9066965-9066980
2	KAP1	chr12:9065591-9066967	HEK293	kidney:	n/a	n/a
3	POLR2A	chr12:9065519-9067177	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr12:9066000-9066219	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUN	chr12:9065985-9066265	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr12:9065219-9066991	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:9065499-9067183	H1-neurons	neurons:	n/a	n/a
8	TAF7	chr12:9064014-9067029	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr12:9065438-9067003	H1-hESC	embryonic stem cell:	n/a	chr12:9065461-9065472 chr12:9065464-9065471 chr12:9065459-9065470 chr12:9065463-9065471 chr12:9066451-9066460
10	SIN3A	chr12:9064234-9069882	H1-hESC	embryonic stem cell:	n/a	chr12:9066956-9066965 chr12:9068258-9068267
11	POLR2A	chr12:9065227-9067927	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr12:9065322-9067165	H1-neurons	neurons:	n/a	chr12:9067106-9067119 chr12:9066955-9066965
13	POLR2A	chr12:9066006-9067026	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr12:9065539-9067070	H1-neurons	neurons:	n/a	chr12:9066955-9066965
15	CTCF	chr12:9066140-9066290	GM12864	blood:	n/a	n/a
16	TBP	chr12:9065230-9067100	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr12:9065557-9067078	H1-hESC	embryonic stem cell:	n/a	chr12:9066967-9066976 chr12:9066971-9066980
18	CTCF	chr12:9066020-9066170	SAEC	small airway:	n/a	n/a
19	ATF2	chr12:9064991-9067056	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:9065974-9067016	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr12:9063586-9066984	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr12:9065642-9067149	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr12:9063955-9067842	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9064962..9066827-chr12:9216213..9218614,2	MCF-7	breast:
2	chr12:9064351..9068260-chr12:9100706..9102986,3	MCF-7	breast:
3	chr12:9065799..9067529-chr12:9095135..9097465,2	MCF-7	breast:
4	chr12:9065401..9068009-chr12:9098811..9103435,5	MCF-7	breast:

Variant related genes	Relation type
PHC1	TF binding region
ENSG00000003056	Chromatin interaction
ENSG00000245105	Chromatin interaction
ENSG00000214851	Chromatin interaction
ENSG00000139187	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1049925	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1073159	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1073160	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11047953	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048023	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048190	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11048195	0.84[EUR][1000 genomes]
rs11048264	0.82[EUR][1000 genomes]
rs11048337	0.82[EUR][1000 genomes]
rs11048338	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11048344	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11048345	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1124402	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11494569	0.81[AMR][1000 genomes]
rs11611106	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11613242	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11613650	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11614970	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12371786	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12422905	0.82[EUR][1000 genomes]
rs12423746	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12423817	0.84[EUR][1000 genomes]
rs12424026	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12812913	0.84[EUR][1000 genomes]
rs12814670	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815310	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12821842	0.84[EUR][1000 genomes]
rs12823100	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12833375	0.82[EUR][1000 genomes]
rs1476911	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1805724	0.84[EUR][1000 genomes]
rs1805732	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1805733	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1805736	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805737	0.89[EUR][1000 genomes]
rs1805745	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805761	0.86[EUR][1000 genomes]
rs1805765	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1805784	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041624	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2041625	0.82[EUR][1000 genomes]
rs2110193	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2159961	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2377672	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2377673	0.82[EUR][1000 genomes]
rs2377674	0.82[EUR][1000 genomes]
rs34798934	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4309200	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6487462	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7299653	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300767	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7301381	0.82[EUR][1000 genomes]
rs7302417	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7303776	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306161	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306165	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7309922	0.83[EUR][1000 genomes]
rs7311483	0.88[ASN][1000 genomes]
rs7311561	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7315055	0.81[EUR][1000 genomes]
rs7957321	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs933462	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9063600-9066400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:9063800-9069600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:9064600-9070200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr12:9064800-9066200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:9064800-9066200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:9064800-9066200	Weak transcription	Thymus	Thymus
7	chr12:9064800-9069400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:9064800-9069600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:9065000-9066400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:9065200-9066200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:9065200-9066200	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr12:9065200-9066400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:9065200-9070200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:9065200-9070200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:9065400-9066200	Flanking Active TSS	Fetal Brain Male	brain
16	chr12:9065400-9066200	Enhancers	Fetal Intestine Large	intestine
17	chr12:9065400-9066400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:9065400-9066600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:9065400-9066600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:9065400-9066600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:9065600-9066200	Flanking Active TSS	Fetal Lung	lung
22	chr12:9065600-9066200	Enhancers	K562	blood
23	chr12:9065600-9066400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:9065600-9066400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:9065600-9066400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr12:9065600-9066400	Flanking Active TSS	Fetal Heart	heart
27	chr12:9065600-9066400	Enhancers	Placenta	Placenta
28	chr12:9065600-9066400	Enhancers	Fetal Thymus	thymus
29	chr12:9065600-9066600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:9065600-9068000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:9065600-9068000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:9065600-9068400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:9065600-9069400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:9065600-9069800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:9065800-9066200	Weak transcription	Primary B cells from cord blood	blood
36	chr12:9065800-9066200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:9065800-9066200	Enhancers	A549	lung
38	chr12:9065800-9066400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr12:9065800-9066400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:9065800-9066400	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr12:9065800-9066400	Flanking Active TSS	Fetal Stomach	stomach
42	chr12:9065800-9066400	Enhancers	HepG2	liver
43	chr12:9065800-9066600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:9065800-9066600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:9065800-9066600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:9065800-9066600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:9065800-9066600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:9065800-9066800	Flanking Active TSS	NHEK	skin
49	chr12:9065800-9067600	Active TSS	Fetal Brain Female	brain
50	chr12:9066000-9066200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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