Variant report

Variant	rs852494
Chromosome Location	chr7:5613449-5613450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5612566..5615646-chr7:5616463..5620493,7	K562	blood:
2	chr7:5612887..5615559-chr7:5708216..5710425,2	K562	blood:
3	chr7:5600294..5603903-chr7:5612812..5615660,3	MCF-7	breast:
4	chr7:5609187..5611309-chr7:5612537..5614699,4	MCF-7	breast:
5	chr7:5609119..5611676-chr7:5612260..5613810,2	MCF-7	breast:
6	chr7:5612870..5615502-chr7:5631394..5634196,3	MCF-7	breast:
7	chr7:5613282..5616036-chr7:5712313..5714535,2	K562	blood:
8	chr7:5608590..5611609-chr7:5612430..5616441,5	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10245763	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1101247	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852491	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852493	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852512	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs852527	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs852530	0.83[AMR][1000 genomes]
rs852532	0.81[AMR][1000 genomes]
rs852533	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5610200-5613800	Weak transcription	Lung	lung
2	chr7:5610200-5613800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:5610400-5613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:5610400-5613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:5610400-5613800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:5610400-5613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:5610400-5613800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:5610400-5613800	Weak transcription	Left Ventricle	heart
9	chr7:5610400-5613800	Weak transcription	Ovary	ovary
10	chr7:5610400-5613800	Weak transcription	Right Atrium	heart
11	chr7:5610400-5614000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:5610400-5614000	Weak transcription	Fetal Heart	heart
13	chr7:5610400-5614000	Weak transcription	Spleen	Spleen
14	chr7:5610400-5614000	Weak transcription	NHLF	lung
15	chr7:5610400-5614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:5610400-5618400	Weak transcription	Pancreas	Pancrea
17	chr7:5610400-5620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:5610600-5613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:5610600-5613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:5610600-5613600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:5610600-5613600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:5610600-5613800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:5610600-5613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:5610600-5613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:5610600-5613800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:5610600-5613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:5610600-5613800	Weak transcription	Adipose Nuclei	Adipose
28	chr7:5610600-5613800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:5610600-5613800	Weak transcription	Fetal Stomach	stomach
30	chr7:5610600-5613800	Weak transcription	Right Ventricle	heart
31	chr7:5610600-5614000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:5610600-5614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:5610600-5614000	Weak transcription	Brain Anterior Caudate	brain
34	chr7:5610600-5614000	Weak transcription	Brain Germinal Matrix	brain
35	chr7:5610600-5614000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:5610600-5614000	Weak transcription	Fetal Brain Male	brain
37	chr7:5610600-5614000	Weak transcription	Fetal Lung	lung
38	chr7:5610600-5614200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:5610600-5614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:5610600-5614200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:5610600-5614200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:5610600-5614200	Weak transcription	Primary B cells from cord blood	blood
43	chr7:5610600-5614200	Weak transcription	NH-A	brain
44	chr7:5610600-5614600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:5610600-5621000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:5611200-5613600	Weak transcription	A549	lung
47	chr7:5611400-5613800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:5611600-5613600	Weak transcription	HUVEC	blood vessel
49	chr7:5611600-5613800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:5611800-5614200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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