Variant report

Variant	rs545476045
Chromosome Location	chr7:5620967-5620968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5619575..5622315-chr7:5631858..5633923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv981427	chr7:5620739-5626996	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5610600-5621000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:5619400-5629800	Weak transcription	Spleen	Spleen
3	chr7:5619400-5631000	Weak transcription	K562	blood
4	chr7:5620200-5621000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:5620200-5621000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:5620200-5621000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:5620200-5621000	Enhancers	Left Ventricle	heart
8	chr7:5620200-5621200	Enhancers	Adipose Nuclei	Adipose
9	chr7:5620200-5621200	Enhancers	Fetal Thymus	thymus
10	chr7:5620200-5621200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr7:5620200-5621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:5620200-5621400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:5620200-5621400	Enhancers	Fetal Stomach	stomach
14	chr7:5620200-5621400	Enhancers	Ovary	ovary
15	chr7:5620400-5621000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:5620400-5621000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:5620400-5621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:5620400-5621000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:5620400-5621000	Enhancers	Pancreas	Pancrea
20	chr7:5620400-5621000	Enhancers	Hela-S3	cervix
21	chr7:5620400-5621200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:5620400-5621200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:5620400-5621400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:5620400-5621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:5620400-5621400	Enhancers	Fetal Lung	lung
26	chr7:5620600-5621000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:5620600-5621000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:5620600-5621000	Enhancers	Liver	Liver
29	chr7:5620600-5621000	Enhancers	Brain Hippocampus Middle	brain
30	chr7:5620600-5621000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr7:5620600-5621000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:5620600-5621000	Enhancers	Right Ventricle	heart
33	chr7:5620600-5621000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr7:5620600-5621000	Enhancers	A549	lung
35	chr7:5620600-5621000	Flanking Active TSS	HUVEC	blood vessel
36	chr7:5620600-5621000	Enhancers	NHLF	lung
37	chr7:5620600-5621000	Flanking Bivalent TSS/Enh	Osteobl	bone
38	chr7:5620600-5621200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:5620600-5621200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:5620600-5621200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:5620600-5621200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:5620600-5621200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:5620600-5621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:5620600-5621200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:5620600-5621200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:5620600-5621200	Weak transcription	Lung	lung
47	chr7:5620600-5621400	Bivalent Enhancer	Placenta	Placenta
48	chr7:5620600-5623000	Enhancers	GM12878-XiMat	blood
49	chr7:5620800-5621000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:5620800-5621000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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