Variant report

Variant	rs73608224
Chromosome Location	chr10:25306712-25306713
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	POLR2A	chr10:25304869-25306829	IMR90	lung:	n/a	n/a
2	E2F6	chr10:25304899-25307215	H1-hESC	embryonic stem cell:	n/a	chr10:25306779-25306786 chr10:25305948-25305960 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25305337-25305346 chr10:25306775-25306783 chr10:25306779-25306786
3	POLR2A	chr10:25305287-25306712	GM12892	blood:	n/a	n/a
4	POLR2A	chr10:25304961-25306994	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:25305100-25306764	GM12878	blood:	n/a	n/a
6	RCOR1	chr10:25304835-25306809	K562	blood:	n/a	n/a
7	GATA3	chr10:25306643-25306853	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr10:25305248-25306739	Hela-S3	cervix:	n/a	n/a
9	TBL1XR1	chr10:25304939-25306885	K562	blood:	n/a	n/a
10	POLR2A	chr10:25305161-25306978	K562	blood:	n/a	n/a
11	E2F6	chr10:25306381-25306982	K562	blood:	n/a	chr10:25306779-25306786 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25306775-25306783 chr10:25306779-25306786
12	POLR2A	chr10:25304899-25307365	K562	blood:	n/a	n/a
13	E2F6	chr10:25306535-25306905	K562	blood:	n/a	chr10:25306779-25306786 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25306775-25306783 chr10:25306779-25306786
14	E2F6	chr10:25305048-25307099	A549	lung:	n/a	chr10:25306779-25306786 chr10:25305948-25305960 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25305337-25305346 chr10:25306775-25306783 chr10:25306779-25306786
15	E2F6	chr10:25304979-25307387	K562	blood:	n/a	chr10:25306779-25306786 chr10:25305948-25305960 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25305337-25305346 chr10:25306775-25306783 chr10:25306779-25306786
16	MAX	chr10:25304687-25307095	A549	lung:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
17	IRF1	chr10:25304884-25306763	K562	blood:	n/a	chr10:25305682-25305692 chr10:25305678-25305692 chr10:25305385-25305399 chr10:25305676-25305693 chr10:25305593-25305607 chr10:25306544-25306558
18	RFX5	chr10:25306625-25307113	K562	blood:	n/a	n/a
19	POLR2A	chr10:25305104-25306876	HepG2	liver:	n/a	n/a
20	MYC	chr10:25304831-25306951	K562	blood:	n/a	chr10:25305892-25305901 chr10:25305505-25305514 chr10:25305500-25305519 chr10:25305507-25305523 chr10:25305504-25305515 chr10:25305919-25305929
21	POLR2A	chr10:25305004-25307005	K562	blood:	n/a	n/a
22	KAP1	chr10:25306229-25306995	K562	blood:	n/a	n/a
23	E2F6	chr10:25306615-25307016	A549	lung:	n/a	chr10:25306779-25306786 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25306775-25306783 chr10:25306779-25306786
24	REST	chr10:25304520-25306779	H1-neurons	neurons:	n/a	chr10:25305961-25305974 chr10:25305390-25305403 chr10:25305383-25305396 chr10:25305926-25305939
25	POLR2A	chr10:25304549-25307291	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr10:25306703-25306970	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr10:25304938-25306889	K562	blood:	n/a	n/a
28	GATA1	chr10:25305048-25306910	PBDE	blood:	n/a	chr10:25305675-25305685 chr10:25306347-25306357
29	JUN	chr10:25306491-25306760	K562	blood:	n/a	n/a
30	POLR2A	chr10:25305039-25306716	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:25304949-25306757	K562	blood:	n/a	n/a
32	POLR2A	chr10:25304907-25306981	GM12891	blood:	n/a	n/a
33	E2F6	chr10:25306591-25307022	H1-hESC	embryonic stem cell:	n/a	chr10:25306779-25306786 chr10:25306779-25306786 chr10:25306775-25306782 chr10:25306774-25306785 chr10:25306775-25306783 chr10:25306778-25306787 chr10:25306775-25306786 chr10:25306774-25306784 chr10:25306775-25306783 chr10:25306779-25306786
34	POLR2A	chr10:25304802-25307072	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:25304575-25307241	MCF10A-Er-Src	breast:	n/a	n/a
36	MXI1	chr10:25303456-25306983	SK-N-SH	brain:	n/a	chr10:25305091-25305106 chr10:25305089-25305104

No.	Distal block	Cell Line	Cell type
1	chr10:24926297..24929907-chr10:25304441..25307349,3	MCF-7	breast:
2	chr10:24911061..24913543-chr10:25305498..25307037,2	MCF-7	breast:
3	chr10:25239937..25242303-chr10:25306318..25308090,2	MCF-7	breast:
4	chr10:25010539..25015061-chr10:25304353..25309032,5	K562	blood:
5	chr10:25306123..25307821-chr10:25350955..25353147,2	MCF-7	breast:
6	chr10:25009784..25012218-chr10:25304353..25306747,3	K562	blood:
7	chr10:25008982..25015736-chr10:25303520..25307645,9	MCF-7	breast:
8	chr10:24878368..24880293-chr10:25305161..25308124,2	K562	blood:
9	chr10:25306319..25307953-chr10:25346499..25349389,2	MCF-7	breast:
10	chr10:25305870..25307859-chr10:25312050..25313670,2	K562	blood:
11	chr10:25011203..25013801-chr10:25304621..25307891,5	MCF-7	breast:
12	chr10:25287153..25289677-chr10:25305591..25307248,2	K562	blood:
13	chr10:25239628..25245194-chr10:25304841..25307327,7	K562	blood:
14	chr10:24974642..24976201-chr10:25305799..25307344,2	MCF-7	breast:
15	chr10:25018793..25020691-chr10:25305744..25307257,2	K562	blood:

Variant related genes	Relation type
ENKUR	TF binding region
ENSG00000199535	Chromatin interaction
ENSG00000107863	Chromatin interaction
ENSG00000099256	Chromatin interaction
ENSG00000273107	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1124490	1.00[EUR][1000 genomes]
rs12241288	1.00[EUR][1000 genomes]
rs12248877	0.86[EUR][1000 genomes]
rs12261100	0.93[EUR][1000 genomes]
rs1388926	0.93[EUR][1000 genomes]
rs1409305	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552772	1.00[EUR][1000 genomes]
rs16925193	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925198	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808907	0.87[EUR][1000 genomes]
rs41279882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41279886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41279890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41279894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41304607	0.93[EUR][1000 genomes]
rs41307498	0.93[EUR][1000 genomes]
rs55788231	0.93[EUR][1000 genomes]
rs57639701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57642444	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57695610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58164169	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58320082	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59189661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876862	0.93[EUR][1000 genomes]
rs60880723	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61278248	1.00[EUR][1000 genomes]
rs61585865	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6482464	1.00[EUR][1000 genomes]
rs7072278	0.80[EUR][1000 genomes]
rs7073171	0.93[EUR][1000 genomes]
rs7075327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7080371	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7083691	0.93[EUR][1000 genomes]
rs7099168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73606594	0.93[EUR][1000 genomes]
rs73606599	1.00[EUR][1000 genomes]
rs73606600	1.00[EUR][1000 genomes]
rs73608203	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608204	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608206	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608210	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73608211	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608214	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73608216	0.93[EUR][1000 genomes]
rs73608217	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73608218	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73608219	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73608223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73608229	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608234	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608237	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608238	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608239	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73608241	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7905478	1.00[EUR][1000 genomes]
rs7920527	0.93[EUR][1000 genomes]
rs9663998	0.90[AMR][1000 genomes];1.00[EUR][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	esv3418576	chr10:25295995-25311122	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25304000-25307000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:25304600-25306800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:25304600-25306800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:25304600-25306800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:25304600-25306800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr10:25304600-25306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:25304600-25306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:25304600-25307000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:25304600-25307000	Active TSS	A549	lung
10	chr10:25304600-25307400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:25304800-25306800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr10:25304800-25306800	Active TSS	Fetal Brain Female	brain
13	chr10:25304800-25307000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr10:25305000-25306800	Active TSS	HMEC	breast
15	chr10:25305000-25307000	Active TSS	Brain Angular Gyrus	brain
16	chr10:25305000-25307200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:25305400-25307000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr10:25306000-25307000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:25306200-25306800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr10:25306200-25306800	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr10:25306200-25307000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:25306200-25307000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr10:25306200-25307000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr10:25306200-25307400	Flanking Active TSS	Dnd41	blood
25	chr10:25306400-25306800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:25306400-25306800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr10:25306400-25306800	Enhancers	Stomach Mucosa	stomach
28	chr10:25306400-25307000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:25306400-25307000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr10:25306400-25307000	Active TSS	Brain Germinal Matrix	brain
31	chr10:25306400-25312400	Weak transcription	Ovary	ovary
32	chr10:25306600-25306800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:25306600-25306800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr10:25306600-25306800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:25306600-25306800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr10:25306600-25306800	Enhancers	Fetal Heart	heart
37	chr10:25306600-25306800	Flanking Active TSS	Fetal Kidney	kidney
38	chr10:25306600-25307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr10:25306600-25307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:25306600-25307000	Enhancers	Primary T cells from cord blood	blood
41	chr10:25306600-25307000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr10:25306600-25307000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr10:25306600-25307000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:25306600-25307000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:25306600-25307000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:25306600-25307000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:25306600-25307000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:25306600-25307000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:25306600-25307000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:25306600-25307000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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