Variant report

Variant	rs852499
Chromosome Location	chr7:5608932-5608933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5601903..5606389-chr7:5607716..5610535,5	MCF-7	breast:
2	chr7:5607347..5609764-chr7:5625302..5626880,2	MCF-7	breast:
3	chr7:5508232..5509825-chr7:5608732..5611658,2	MCF-7	breast:
4	chr7:5600360..5604967-chr7:5605162..5611387,11	MCF-7	breast:
5	chr7:5607571..5611303-chr7:5630699..5633841,5	MCF-7	breast:
6	chr7:5608590..5611609-chr7:5612430..5616441,5	K562	blood:
7	chr7:5608695..5611336-chr7:5618694..5620634,2	MCF-7	breast:
8	chr7:5569812..5572018-chr7:5607742..5609745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228974	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10245763	0.92[ASN][1000 genomes]
rs1101247	0.93[ASN][1000 genomes]
rs12666245	0.85[GIH][hapmap];0.81[MEX][hapmap]
rs28568629	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3857755	0.81[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs852498	0.94[ASN][1000 genomes]
rs852500	0.94[ASN][1000 genomes]
rs852502	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852507	0.98[ASN][1000 genomes]
rs852510	0.97[ASN][1000 genomes]
rs852512	0.92[ASN][1000 genomes]
rs852526	0.94[JPT][hapmap]
rs852527	0.87[ASN][1000 genomes]
rs852529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs852530	0.88[ASN][1000 genomes]
rs852531	0.87[ASN][1000 genomes]
rs852533	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv13701	chr7:5607355-5611372	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5603200-5609000	Weak transcription	Fetal Heart	heart
2	chr7:5603400-5609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:5603400-5609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:5603400-5609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:5603400-5609000	Weak transcription	Liver	Liver
6	chr7:5603400-5609000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:5603400-5609000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:5603400-5609000	Weak transcription	Left Ventricle	heart
9	chr7:5603400-5609000	Weak transcription	Ovary	ovary
10	chr7:5603400-5609000	Weak transcription	Psoas Muscle	Psoas
11	chr7:5603400-5609000	Weak transcription	Right Atrium	heart
12	chr7:5603400-5609000	Weak transcription	Spleen	Spleen
13	chr7:5603400-5609000	Weak transcription	HSMMtube	muscle
14	chr7:5603400-5609000	Weak transcription	NH-A	brain
15	chr7:5603400-5609000	Weak transcription	NHDF-Ad	bronchial
16	chr7:5603400-5609000	Weak transcription	NHLF	lung
17	chr7:5603600-5609000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:5603600-5609000	Weak transcription	Primary B cells from cord blood	blood
19	chr7:5603600-5609000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:5603600-5609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:5603600-5609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:5603600-5609000	Weak transcription	Brain Germinal Matrix	brain
23	chr7:5603600-5609000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:5603600-5609000	Weak transcription	Colonic Mucosa	Colon
25	chr7:5603600-5609000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:5603600-5609400	Weak transcription	Stomach Mucosa	stomach
27	chr7:5603800-5609000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:5606600-5609000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:5606800-5609000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:5607200-5609000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:5607400-5609000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:5607400-5609000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr7:5607400-5609000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:5607400-5609200	Enhancers	Fetal Thymus	thymus
35	chr7:5607600-5609000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:5607600-5609000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:5607800-5609000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:5607800-5609000	Weak transcription	Brain Anterior Caudate	brain
39	chr7:5607800-5609000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:5607800-5609000	Weak transcription	Esophagus	oesophagus
41	chr7:5607800-5609000	Weak transcription	Fetal Brain Female	brain
42	chr7:5607800-5609000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:5607800-5609000	Weak transcription	HSMM	muscle
44	chr7:5607800-5609000	Weak transcription	K562	blood
45	chr7:5607800-5609000	Weak transcription	Osteobl	bone
46	chr7:5608000-5609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:5608600-5609000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:5608600-5609000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:5608600-5609000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:5608600-5610600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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