Variant report

Variant	rs543457515
Chromosome Location	chr6:45388640-45388641
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	MAX	chr6:45388293-45388809	SK-N-SH	brain:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
2	POLR2A	chr6:45388294-45388680	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F6	chr6:45388391-45388718	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr6:45388368-45388750	H1-hESC	embryonic stem cell:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
5	FOS	chr6:45388540-45389000	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr6:45388419-45392074	IMR90	lung:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591 chr6:45388466-45388478
7	MYC	chr6:45388087-45388762	NB4	blood:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
8	POLR2A	chr6:45388393-45388758	HL-60	blood:	n/a	n/a
9	POLR2A	chr6:45388208-45388882	H1-neurons	neurons:	n/a	n/a
10	CHD1	chr6:45388363-45391883	IMR90	lung:	n/a	chr6:45391066-45391076 chr6:45391635-45391645
11	MAX	chr6:45388355-45388766	K562	blood:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
12	E2F4	chr6:45388410-45388809	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr6:45388571-45388692	GM12878	blood:	n/a	n/a
14	E2F6	chr6:45387954-45388748	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:45388448-45388720	H1-hESC	embryonic stem cell:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
16	POLR2A	chr6:45388229-45388645	SK-N-SH	brain:	n/a	n/a
17	MAX	chr6:45388197-45388789	NB4	blood:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
18	MXI1	chr6:45387978-45389214	IMR90	lung:	n/a	chr6:45388578-45388587
19	POLR2A	chr6:45388331-45388819	U87	brain:	n/a	n/a
20	UBTF	chr6:45388598-45388777	K562	blood:	n/a	n/a
21	MAX	chr6:45388309-45388822	SK-N-SH	brain:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
22	RUNX3	chr6:45388480-45388802	GM12878	blood:	n/a	chr6:45388638-45388647 chr6:45388638-45388647 chr6:45388638-45388655
23	MAFK	chr6:45388511-45388825	IMR90	lung:	n/a	n/a
24	MYC	chr6:45388334-45388755	MCF10A-Er-Src	breast:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
25	MYC	chr6:45388218-45389044	MCF10A-Er-Src	breast:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
26	POLR2A	chr6:45388321-45388785	HL-60	blood:	n/a	n/a
27	MAX	chr6:45388340-45388741	H1-hESC	embryonic stem cell:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
28	USF1	chr6:45388449-45388673	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr6:45388331-45388875	U87	brain:	n/a	n/a
30	MAX	chr6:45388400-45388690	K562	blood:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45388579-45388589
31	USF1	chr6:45388418-45388642	SK-N-SH_RA	brain:	n/a	n/a
32	USF1	chr6:45388394-45388748	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:45387883-45388906	H1-neurons	neurons:	n/a	n/a
34	USF1	chr6:45388368-45388680	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:45388349-45388778	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr6:45388403-45390078	K562	blood:	n/a	chr6:45388578-45388589 chr6:45388578-45388588 chr6:45388579-45388588 chr6:45388580-45388587 chr6:45389137-45389147 chr6:45388579-45388589

No.	Distal block	Cell Line	Cell type
1	chr6:45388588..45389630-chr6:45682064..45682718,3	MCF-7	breast:
2	chr6:45343194..45347445-chr6:45386856..45389425,4	MCF-7	breast:
3	chr6:45387795..45389727-chr6:45621998..45623537,2	MCF-7	breast:
4	chr6:44621438..44623552-chr6:45385736..45388859,3	MCF-7	breast:
5	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:

Variant related genes	Relation type
RUNX2	TF binding region
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3495915	chr6:45388574-45392472	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3495916	chr6:45388574-45392472	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45386800-45389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:45386800-45389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:45387000-45388800	Flanking Active TSS	NH-A	brain
4	chr6:45387000-45389000	Flanking Active TSS	Osteobl	bone
5	chr6:45387000-45389400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr6:45387000-45389800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:45387000-45391800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:45387200-45388800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
10	chr6:45387200-45388800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
11	chr6:45387200-45388800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:45387200-45389000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr6:45387200-45389000	Flanking Active TSS	HMEC	breast
14	chr6:45387200-45389000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr6:45387200-45389200	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr6:45387200-45389400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:45387200-45389400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr6:45387200-45389600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
20	chr6:45387200-45390800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr6:45387400-45388800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr6:45387400-45389000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:45387400-45389200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr6:45387400-45389400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:45387400-45389600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:45387400-45391000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:45387600-45388800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
28	chr6:45387600-45388800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:45387600-45389000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:45387600-45389200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr6:45387600-45389200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr6:45387600-45389200	Bivalent Enhancer	Placenta	Placenta
33	chr6:45387600-45389200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr6:45387600-45389600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
35	chr6:45387800-45388800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:45387800-45388800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr6:45387800-45388800	Bivalent Enhancer	Fetal Heart	heart
38	chr6:45387800-45389000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
39	chr6:45387800-45389200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr6:45387800-45389200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:45387800-45389200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr6:45387800-45389200	Bivalent Enhancer	Fetal Lung	lung
43	chr6:45387800-45389200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr6:45387800-45389400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:45387800-45389400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr6:45387800-45389400	Bivalent Enhancer	HUVEC	blood vessel
47	chr6:45387800-45389600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:45387800-45390000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr6:45388000-45388800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr6:45388000-45388800	Bivalent Enhancer	Fetal Intestine Large	intestine

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