Variant report

Variant	rs10245763
Chromosome Location	chr7:5603563-5603564
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	RAD21	chr7:5603188-5603605	GM12878	blood:	n/a	chr7:5603374-5603393
2	MAFF	chr7:5603343-5603623	HepG2	liver:	n/a	n/a
3	MTA3	chr7:5603205-5603563	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:5602759-5603570	A549	lung:	n/a	n/a
5	MAZ	chr7:5601520-5603624	IMR90	lung:	n/a	chr7:5602244-5602254
6	MAX	chr7:5602677-5603649	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr7:5603101-5603596	A549	lung:	n/a	chr7:5603376-5603389 chr7:5603373-5603391 chr7:5603376-5603389 chr7:5603375-5603396 chr7:5603374-5603390
8	RAD21	chr7:5603119-5603600	H1-hESC	embryonic stem cell:	n/a	chr7:5603374-5603393
9	MAZ	chr7:5603203-5603569	GM12878	blood:	n/a	n/a
10	ELF1	chr7:5601587-5603568	MCF-7	breast:	n/a	n/a
11	YY1	chr7:5603095-5603618	H1-hESC	embryonic stem cell:	n/a	chr7:5603396-5603407
12	MAX	chr7:5603079-5603628	A549	lung:	n/a	n/a
13	ZBTB7A	chr7:5601523-5603566	ECC-1	luminal epithelium:	n/a	chr7:5602743-5602751
14	MAX	chr7:5603057-5603628	ECC-1	luminal epithelium:	n/a	n/a
15	ZNF143	chr7:5602855-5603580	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr7:5603074-5603597	SK-N-SH_RA	brain:	n/a	chr7:5603374-5603393
17	EP300	chr7:5601650-5603657	ECC-1	luminal epithelium:	n/a	chr7:5602505-5602521 chr7:5602496-5602512
18	MYC	chr7:5603230-5603579	NB4	blood:	n/a	n/a
19	SMC3	chr7:5603084-5603597	GM12878	blood:	n/a	chr7:5603379-5603389 chr7:5603375-5603389
20	SP1	chr7:5603138-5603664	A549	lung:	n/a	n/a
21	RAD21	chr7:5601611-5603633	HCT-116	colon:	n/a	chr7:5602390-5602403 chr7:5603374-5603393 chr7:5602326-5602335
22	E2F4	chr7:5603258-5603589	MCF10A-Er-Src	breast:	n/a	chr7:5603397-5603412
23	MAX	chr7:5603133-5603619	K562	blood:	n/a	n/a
24	JUND	chr7:5603160-5603612	A549	lung:	n/a	chr7:5603271-5603285 chr7:5603242-5603251
25	YY1	chr7:5603269-5603575	HCT-116	colon:	n/a	chr7:5603396-5603407
26	RAD21	chr7:5602952-5603616	H1-hESC	embryonic stem cell:	n/a	chr7:5603374-5603393
27	CREB1	chr7:5603161-5603620	A549	lung:	n/a	n/a
28	MAX	chr7:5601557-5603620	SK-N-SH	brain:	n/a	chr7:5602244-5602254
29	TCF12	chr7:5603088-5603653	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr7:5603102-5603656	ECC-1	luminal epithelium:	n/a	n/a
31	SMC3	chr7:5602727-5603598	K562	blood:	n/a	chr7:5603379-5603389 chr7:5603375-5603389 chr7:5602881-5602888
32	RAD21	chr7:5602987-5603576	HepG2	liver:	n/a	chr7:5603374-5603393
33	MAZ	chr7:5601645-5603601	K562	blood:	n/a	chr7:5602244-5602254
34	MTA3	chr7:5603096-5603635	GM12878	blood:	n/a	n/a
35	MAX	chr7:5601505-5603642	A549	lung:	n/a	chr7:5602244-5602254
36	RAD21	chr7:5602539-5603597	IMR90	lung:	n/a	chr7:5603374-5603393
37	RAD21	chr7:5602762-5603666	HCT-116	colon:	n/a	chr7:5603374-5603393
38	ZBTB7A	chr7:5601601-5603574	ECC-1	luminal epithelium:	n/a	chr7:5602743-5602751
39	RAD21	chr7:5603160-5603582	HepG2	liver:	n/a	chr7:5603374-5603393
40	MAFK	chr7:5603234-5603590	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr7:5601151-5603648	SK-N-SH	brain:	n/a	chr7:5602390-5602403 chr7:5603374-5603393 chr7:5602326-5602335
42	RAD21	chr7:5603236-5603563	K562	blood:	n/a	chr7:5603374-5603393
43	FOXM1	chr7:5603090-5603609	GM12878	blood:	n/a	n/a
44	SP1	chr7:5603102-5603701	A549	lung:	n/a	n/a
45	CTCF	chr7:5602987-5603592	IMR90	lung:	n/a	chr7:5603376-5603389 chr7:5603373-5603391 chr7:5603376-5603389 chr7:5603375-5603396 chr7:5603374-5603390
46	MBD4	chr7:5603227-5603622	HepG2	liver:	n/a	n/a
47	RFX5	chr7:5602265-5603564	Hela-S3	cervix:	n/a	chr7:5603303-5603312
48	JUN	chr7:5601429-5603626	K562	blood:	n/a	chr7:5602754-5602764 chr7:5602406-5602416 chr7:5602755-5602763 chr7:5602405-5602417 chr7:5602406-5602416 chr7:5602753-5602765 chr7:5602406-5602416 chr7:5603271-5603285 chr7:5602407-5602415 chr7:5602754-5602764 chr7:5602754-5602764 chr7:5603242-5603251
49	CEBPB	chr7:5603258-5603563	K562	blood:	n/a	n/a
50	ZEB1	chr7:5601492-5603572	HepG2	liver:	n/a	chr7:5602331-5602338 chr7:5603138-5603149

No.	Distal block	Cell Line	Cell type
1	chr7:5467744..5470492-chr7:5602322..5603913,2	MCF-7	breast:
2	chr7:5459451..5462326-chr7:5602186..5603926,2	MCF-7	breast:
3	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
4	chr7:5532197..5537592-chr7:5593884..5603950,17	MCF-7	breast:

Variant related genes	Relation type
ACTB	TF binding region
ENSG00000075624	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000241269	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000188365	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1101247	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28568629	0.94[ASN][1000 genomes]
rs852493	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs852494	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs852498	0.96[ASN][1000 genomes]
rs852499	0.92[ASN][1000 genomes]
rs852500	0.96[ASN][1000 genomes]
rs852502	0.94[ASN][1000 genomes]
rs852507	0.94[ASN][1000 genomes]
rs852510	0.95[ASN][1000 genomes]
rs852512	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852526	0.84[ASN][1000 genomes]
rs852527	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852529	0.94[ASN][1000 genomes]
rs852530	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852531	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852532	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs852533	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
10	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
11	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
13	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
14	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
15	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
16	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
17	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
18	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
20	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5601600-5603600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:5601600-5603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:5601600-5603600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr7:5601600-5603600	Flanking Active TSS	NHEK	skin
5	chr7:5601800-5603600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr7:5601800-5603600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr7:5601800-5603600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr7:5602000-5603600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:5602400-5603600	Active TSS	Brain Substantia Nigra	brain
10	chr7:5602400-5603600	Flanking Active TSS	Colonic Mucosa	Colon
11	chr7:5602600-5603600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:5602800-5603600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:5602800-5603600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr7:5603000-5603600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:5603200-5603600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:5603200-5603600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:5603200-5603600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:5603200-5603600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr7:5603200-5603600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:5603200-5603600	Active TSS	Colon Smooth Muscle	Colon
21	chr7:5603200-5603600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr7:5603200-5603600	Enhancers	Fetal Brain Male	brain
23	chr7:5603200-5603600	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr7:5603200-5603600	Enhancers	Stomach Mucosa	stomach
25	chr7:5603200-5603600	Flanking Active TSS	Dnd41	blood
26	chr7:5603200-5603600	Active TSS	HepG2	liver
27	chr7:5603200-5605600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:5603200-5609000	Weak transcription	Fetal Heart	heart
29	chr7:5603400-5603600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:5603400-5603600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:5603400-5603600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:5603400-5603600	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr7:5603400-5603600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:5603400-5603600	Enhancers	Primary B cells from cord blood	blood
35	chr7:5603400-5603600	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:5603400-5603600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:5603400-5603600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:5603400-5603600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:5603400-5603600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr7:5603400-5603600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr7:5603400-5603600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:5603400-5603600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:5603400-5603600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:5603400-5603600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:5603400-5603600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:5603400-5603600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:5603400-5603600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:5603400-5603600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:5603400-5603600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:5603400-5603600	Active TSS	Brain Anterior Caudate	brain

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