Variant report

Variant	rs9392571
Chromosome Location	chr6:4253912-4253913
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4252767..4255076-chr6:4255779..4258262,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1072904	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12204780	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1327993	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61080301	0.94[EUR][1000 genomes]
rs6937085	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7748667	0.86[ASN][1000 genomes]
rs7753345	0.87[EUR][1000 genomes]
rs7763115	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9328228	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328234	0.94[EUR][1000 genomes]
rs9328235	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9405718	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9502156	0.94[EUR][1000 genomes]
rs9504019	0.92[EUR][1000 genomes]
rs9504020	0.93[EUR][1000 genomes]
rs9504021	0.93[EUR][1000 genomes]
rs9504041	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv600861	chr6:4238488-4469641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv462618	chr6:4238488-4472587	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv600862	chr6:4238488-4472587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv949364	chr6:4253413-4466981	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4253200-4254000	Enhancers	Adipose Nuclei	Adipose
2	chr6:4253200-4254000	Enhancers	Stomach Smooth Muscle	stomach
3	chr6:4253200-4254200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:4253200-4254200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:4253200-4254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:4253200-4254600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:4253200-4254600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:4253200-4254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:4253200-4254800	Enhancers	Fetal Muscle Leg	muscle
10	chr6:4253200-4254800	Enhancers	Fetal Stomach	stomach
11	chr6:4253200-4254800	Enhancers	Psoas Muscle	Psoas
12	chr6:4253200-4255000	Enhancers	HUVEC	blood vessel
13	chr6:4253400-4254000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:4253400-4254000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:4253400-4254200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:4253400-4254400	Enhancers	Lung	lung
17	chr6:4253400-4254400	Enhancers	Pancreas	Pancrea
18	chr6:4253400-4254600	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:4253400-4254600	Enhancers	Placenta	Placenta
20	chr6:4253400-4254600	Enhancers	Left Ventricle	heart
21	chr6:4253400-4254600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:4253400-4254600	Enhancers	NHDF-Ad	bronchial
23	chr6:4253400-4254800	Enhancers	Colon Smooth Muscle	Colon
24	chr6:4253400-4254800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr6:4253400-4254800	Enhancers	Fetal Lung	lung
26	chr6:4253400-4254800	Enhancers	Fetal Thymus	thymus
27	chr6:4253400-4254800	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:4253400-4254800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:4253400-4255000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:4253600-4254000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:4253600-4254200	Enhancers	Aorta	Aorta
32	chr6:4253600-4254400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:4253600-4254400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:4253600-4254600	Enhancers	Fetal Heart	heart
35	chr6:4253600-4254600	Enhancers	Right Ventricle	heart
36	chr6:4253600-4254800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:4253600-4254800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:4253600-4254800	Enhancers	Right Atrium	heart
39	chr6:4253600-4254800	Enhancers	Hela-S3	cervix
40	chr6:4253600-4254800	Enhancers	NHEK	skin
41	chr6:4253800-4254200	Enhancers	Esophagus	oesophagus
42	chr6:4253800-4254200	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:4253800-4254400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:4253800-4254400	Enhancers	Brain Hippocampus Middle	brain
45	chr6:4253800-4254400	Bivalent Enhancer	HepG2	liver
46	chr6:4253800-4254600	Enhancers	Ovary	ovary
47	chr6:4253800-4254600	Enhancers	A549	lung
48	chr6:4253800-4254800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:4253800-4254800	Enhancers	Stomach Mucosa	stomach
50	chr6:4253800-4254800	Enhancers	NH-A	brain

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