Variant report

Variant	rs13229753
Chromosome Location	chr7:5600822-5600823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
2	chr7:5462745..5465078-chr7:5600446..5602403,2	MCF-7	breast:
3	chr7:5532197..5537592-chr7:5593884..5603950,17	MCF-7	breast:
4	chr7:5531499..5540573-chr7:5594200..5602257,20	MCF-7	breast:
5	chr7:5467506..5469291-chr7:5600592..5602270,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207973	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000182095	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13231520	1.00[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5596400-5601800	Weak transcription	Ovary	ovary
2	chr7:5596600-5601800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:5596600-5601800	Weak transcription	Fetal Kidney	kidney
4	chr7:5596800-5601600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:5596800-5601600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:5596800-5601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:5596800-5601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:5597000-5601600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:5597800-5601800	Weak transcription	Aorta	Aorta
10	chr7:5598400-5601600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:5598400-5601800	Weak transcription	Gastric	stomach
12	chr7:5598400-5601800	Weak transcription	Small Intestine	intestine
13	chr7:5598600-5601200	Weak transcription	Hela-S3	cervix
14	chr7:5598600-5601200	Weak transcription	HepG2	liver
15	chr7:5598600-5601200	Weak transcription	HMEC	breast
16	chr7:5598600-5601400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:5598600-5601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:5598600-5601400	Weak transcription	Stomach Mucosa	stomach
19	chr7:5598600-5601600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:5598600-5601600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:5598600-5601600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:5598600-5601600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:5598600-5601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:5598600-5601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:5598600-5601600	Weak transcription	Liver	Liver
26	chr7:5598600-5601600	Weak transcription	Brain Angular Gyrus	brain
27	chr7:5598600-5601600	Weak transcription	Colonic Mucosa	Colon
28	chr7:5598600-5601600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:5598600-5601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:5598600-5601600	Weak transcription	Fetal Intestine Large	intestine
31	chr7:5598600-5601600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:5598600-5601600	Weak transcription	HSMMtube	muscle
33	chr7:5598600-5601600	Weak transcription	NH-A	brain
34	chr7:5598600-5601600	Weak transcription	NHEK	skin
35	chr7:5598600-5601600	Weak transcription	NHLF	lung
36	chr7:5598600-5601600	Weak transcription	Osteobl	bone
37	chr7:5598600-5601800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:5598600-5601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:5598600-5601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:5598600-5601800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:5598600-5601800	Weak transcription	Fetal Heart	heart
42	chr7:5598600-5601800	Weak transcription	Fetal Lung	lung
43	chr7:5598600-5601800	Weak transcription	Left Ventricle	heart
44	chr7:5598600-5601800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:5598600-5601800	Weak transcription	Psoas Muscle	Psoas
46	chr7:5598600-5601800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:5598600-5601800	Weak transcription	HSMM	muscle
48	chr7:5598600-5601800	Weak transcription	NHDF-Ad	bronchial
49	chr7:5598800-5601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:5598800-5601400	Weak transcription	Brain Inferior Temporal Lobe	brain

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