Variant report

Variant	rs852495
Chromosome Location	chr7:5611675-5611676
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	chr7:5609119..5611676-chr7:5612260..5613810,2	MCF-7	breast:
2	chr7:5610379..5612881-chr7:5704226..5706275,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1628786	1.00[AMR][1000 genomes]
rs1725186	1.00[AMR][1000 genomes]
rs1990835	0.83[AMR][1000 genomes]
rs2161012	0.83[AMR][1000 genomes]
rs2693951	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2908421	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3943984	0.83[AMR][1000 genomes]
rs4720636	0.83[AMR][1000 genomes]
rs4724714	0.83[AMR][1000 genomes]
rs6463508	0.83[AMR][1000 genomes]
rs710939	1.00[AMR][1000 genomes]
rs710940	1.00[AMR][1000 genomes]
rs710942	1.00[AMR][1000 genomes]
rs7790499	0.83[AMR][1000 genomes]
rs852260	0.83[AMR][1000 genomes]
rs852262	1.00[AMR][1000 genomes]
rs852264	1.00[AMR][1000 genomes]
rs852377	0.83[AMR][1000 genomes]
rs852381	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs852383	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852384	0.97[ASN][1000 genomes]
rs852398	1.00[AMR][1000 genomes]
rs852399	1.00[AMR][1000 genomes]
rs852401	1.00[AMR][1000 genomes]
rs852404	1.00[AMR][1000 genomes]
rs852407	1.00[AMR][1000 genomes]
rs852408	1.00[AMR][1000 genomes]
rs852412	1.00[AMR][1000 genomes]
rs852413	1.00[AMR][1000 genomes]
rs852416	1.00[AMR][1000 genomes]
rs852419	1.00[AMR][1000 genomes]
rs852437	0.85[AMR][1000 genomes]
rs852440	0.85[AMR][1000 genomes]
rs852443	1.00[AMR][1000 genomes]
rs852449	1.00[AMR][1000 genomes]
rs852451	1.00[AMR][1000 genomes]
rs852458	1.00[AMR][1000 genomes]
rs852462	0.85[AMR][1000 genomes]
rs852465	1.00[AMR][1000 genomes]
rs852475	0.85[AMR][1000 genomes]
rs852476	1.00[AMR][1000 genomes]
rs852480	1.00[AMR][1000 genomes]
rs852487	0.85[AMR][1000 genomes]
rs852490	1.00[AMR][1000 genomes]
rs852492	0.88[ASN][1000 genomes]
rs852496	0.86[ASN][1000 genomes]
rs852497	1.00[EUR][1000 genomes]
rs852501	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852503	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852504	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852509	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852513	0.81[ASN][1000 genomes]
rs852518	1.00[AMR][1000 genomes]
rs852523	1.00[AMR][1000 genomes]
rs852524	1.00[AMR][1000 genomes]
rs852525	1.00[AMR][1000 genomes]
rs852528	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852536	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs852541	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852543	1.00[AMR][1000 genomes]
rs852544	1.00[AMR][1000 genomes]
rs941016	0.85[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:61 , 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	chr7:5610400-5612000	Enhancers	Placenta	Placenta
4	chr7:5610400-5612200	Enhancers	Hela-S3	cervix
5	chr7:5610400-5613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:5610400-5613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:5610400-5613800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:5610400-5613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:5610400-5613800	Weak transcription	Brain Substantia Nigra	brain
10	chr7:5610400-5613800	Weak transcription	Left Ventricle	heart
11	chr7:5610400-5613800	Weak transcription	Ovary	ovary
12	chr7:5610400-5613800	Weak transcription	Right Atrium	heart
13	chr7:5610400-5614000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:5610400-5614000	Weak transcription	Fetal Heart	heart
15	chr7:5610400-5614000	Weak transcription	Spleen	Spleen
16	chr7:5610400-5614000	Weak transcription	NHLF	lung
17	chr7:5610400-5614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:5610400-5618400	Weak transcription	Pancreas	Pancrea
19	chr7:5610400-5620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:5610600-5611800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:5610600-5611800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:5610600-5611800	Weak transcription	NHEK	skin
23	chr7:5610600-5612000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:5610600-5612200	Enhancers	HepG2	liver
25	chr7:5610600-5613400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:5610600-5613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:5610600-5613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:5610600-5613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:5610600-5613600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:5610600-5613600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:5610600-5613800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:5610600-5613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:5610600-5613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:5610600-5613800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:5610600-5613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:5610600-5613800	Weak transcription	Adipose Nuclei	Adipose
37	chr7:5610600-5613800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:5610600-5613800	Weak transcription	Fetal Stomach	stomach
39	chr7:5610600-5613800	Weak transcription	Right Ventricle	heart
40	chr7:5610600-5614000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:5610600-5614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:5610600-5614000	Weak transcription	Brain Anterior Caudate	brain
43	chr7:5610600-5614000	Weak transcription	Brain Germinal Matrix	brain
44	chr7:5610600-5614000	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:5610600-5614000	Weak transcription	Fetal Brain Male	brain
46	chr7:5610600-5614000	Weak transcription	Fetal Lung	lung
47	chr7:5610600-5614200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:5610600-5614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:5610600-5614200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:5610600-5614200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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