Variant report

Variant	rs852533
Chromosome Location	chr7:5596883-5596884
allele	C/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	POLR2A	chr7:5595963-5597091	PANC-1	pancreas:	n/a	n/a
2	STAT3	chr7:5595427-5597048	MCF10A-Er-Src	breast:	n/a	chr7:5596281-5596293 chr7:5596276-5596288 chr7:5596257-5596269 chr7:5596111-5596118
3	NR3C1	chr7:5596733-5597181	A549	lung:	n/a	chr7:5596900-5596914 chr7:5596900-5596914
4	STAT5A	chr7:5594339-5596998	GM12878	blood:	n/a	chr7:5596281-5596293 chr7:5596276-5596288 chr7:5596257-5596269 chr7:5596111-5596118
5	MTA3	chr7:5593891-5599216	GM12878	blood:	n/a	n/a
6	RCOR1	chr7:5593908-5596961	IMR90	lung:	n/a	n/a
7	POLR2A	chr7:5594221-5596937	MCF10A-Er-Src	breast:	n/a	n/a
8	ZBTB7A	chr7:5594510-5596917	ECC-1	luminal epithelium:	n/a	chr7:5596203-5596210 chr7:5595323-5595331 chr7:5596215-5596224
9	TCF12	chr7:5593931-5597250	A549	lung:	n/a	n/a
10	NR3C1	chr7:5596743-5597117	A549	lung:	n/a	chr7:5596900-5596914 chr7:5596900-5596914
11	POLR2A	chr7:5593940-5598939	GM12878	blood:	n/a	n/a
12	RUNX3	chr7:5596792-5598895	GM12878	blood:	n/a	n/a
13	STAT3	chr7:5596856-5597250	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:5594508-5598103	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:5594159-5598770	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:5594255-5598197	GM12878	blood:	n/a	n/a
17	HCFC1	chr7:5594357-5596920	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5595299..5597821-chr7:5720043..5723343,4	MCF-7	breast:
2	chr7:5531500..5533509-chr7:5596398..5598659,2	K562	blood:
3	chr7:5533565..5537610-chr7:5594791..5600448,10	K562	blood:
4	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
5	chr7:5595573..5597650-chr7:5633861..5636258,2	MCF-7	breast:
6	chr7:5532197..5537592-chr7:5593884..5603950,17	MCF-7	breast:
7	chr7:5464910..5469932-chr7:5594160..5600416,10	MCF-7	breast:
8	chr7:5538898..5541659-chr7:5596003..5598551,3	MCF-7	breast:
9	chr7:5463546..5466372-chr7:5594694..5597201,2	K562	blood:
10	chr7:5551753..5555420-chr7:5594196..5597835,12	MCF-7	breast:
11	chr7:5458987..5464555-chr7:5593156..5597256,5	K562	blood:
12	chr7:5531499..5540573-chr7:5594200..5602257,20	MCF-7	breast:
13	chr7:5595916..5598684-chr7:5631829..5634716,2	MCF-7	breast:
14	chr7:5463649..5470093-chr7:5593803..5597245,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228974	TF binding region
ENSG00000188365	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000237738	Chromatin interaction
ENSG00000241269	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000207973	Chromatin interaction

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

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

rs_ID	r²[population]
rs10245763	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1101247	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28568629	0.88[ASN][1000 genomes]
rs852493	0.87[AMR][1000 genomes]
rs852494	0.83[AMR][1000 genomes]
rs852498	0.92[ASN][1000 genomes]
rs852499	0.86[ASN][1000 genomes]
rs852500	0.92[ASN][1000 genomes]
rs852502	0.88[ASN][1000 genomes]
rs852507	0.88[ASN][1000 genomes]
rs852510	0.89[ASN][1000 genomes]
rs852512	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs852526	0.84[ASN][1000 genomes]
rs852527	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852529	0.92[ASN][1000 genomes]
rs852530	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852531	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852532	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5594800-5598600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr7:5594800-5598800	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr7:5594800-5599000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr7:5595400-5597000	Active TSS	Right Ventricle	heart
5	chr7:5595800-5597200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:5595800-5597600	Active TSS	Brain Hippocampus Middle	brain
7	chr7:5596000-5597400	Enhancers	Fetal Brain Male	brain
8	chr7:5596200-5598600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:5596200-5598600	Enhancers	Fetal Heart	heart
10	chr7:5596200-5598600	Enhancers	Fetal Lung	lung
11	chr7:5596400-5597000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:5596400-5597000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:5596400-5597000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:5596400-5597000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:5596400-5597000	Flanking Active TSS	HSMM	muscle
16	chr7:5596400-5597200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:5596400-5597200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:5596400-5597200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:5596400-5598600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:5596400-5598600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:5596400-5598600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:5596400-5598600	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:5596400-5598600	Flanking Active TSS	Hela-S3	cervix
24	chr7:5596400-5598800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr7:5596400-5599000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr7:5596400-5599000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:5596400-5599000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:5596400-5599000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr7:5596400-5599800	Enhancers	Spleen	Spleen
30	chr7:5596400-5601800	Weak transcription	Ovary	ovary
31	chr7:5596600-5597400	Weak transcription	Aorta	Aorta
32	chr7:5596600-5597400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:5596600-5597400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:5596600-5597400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:5596600-5597600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:5596600-5597600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:5596600-5597600	Enhancers	Fetal Thymus	thymus
38	chr7:5596600-5597600	Weak transcription	Pancreas	Pancrea
39	chr7:5596600-5597600	Enhancers	Stomach Mucosa	stomach
40	chr7:5596600-5597600	Weak transcription	Dnd41	blood
41	chr7:5596600-5598000	Flanking Active TSS	A549	lung
42	chr7:5596600-5598200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:5596600-5598600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:5596600-5598600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr7:5596600-5598600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr7:5596600-5598600	Enhancers	Fetal Intestine Large	intestine
47	chr7:5596600-5598600	Enhancers	HMEC	breast
48	chr7:5596600-5598600	Enhancers	HSMMtube	muscle
49	chr7:5596600-5598600	Enhancers	NHDF-Ad	bronchial
50	chr7:5596600-5598800	Enhancers	Placenta	Placenta

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