Variant report

Variant	rs73717478
Chromosome Location	chr6:4254624-4254625
allele	C/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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55645023	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55954036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56020009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56163885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56221707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56928713	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58316736	1.00[AMR][1000 genomes]
rs58511621	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58922374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59787593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60324766	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258183	1.00[AMR][1000 genomes]
rs61707542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71555845	1.00[AMR][1000 genomes]
rs73717464	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717466	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717469	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717483	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717493	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723635	1.00[AMR][1000 genomes]
rs9504023	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv17585	chr6:4254023-4257185	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4253200-4254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:4253200-4254800	Enhancers	Fetal Muscle Leg	muscle
3	chr6:4253200-4254800	Enhancers	Fetal Stomach	stomach
4	chr6:4253200-4254800	Enhancers	Psoas Muscle	Psoas
5	chr6:4253200-4255000	Enhancers	HUVEC	blood vessel
6	chr6:4253400-4254800	Enhancers	Colon Smooth Muscle	Colon
7	chr6:4253400-4254800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr6:4253400-4254800	Enhancers	Fetal Lung	lung
9	chr6:4253400-4254800	Enhancers	Fetal Thymus	thymus
10	chr6:4253400-4254800	Enhancers	Rectal Smooth Muscle	rectum
11	chr6:4253400-4254800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:4253400-4255000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:4253600-4254800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:4253600-4254800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:4253600-4254800	Enhancers	Right Atrium	heart
16	chr6:4253600-4254800	Enhancers	Hela-S3	cervix
17	chr6:4253600-4254800	Enhancers	NHEK	skin
18	chr6:4253800-4254800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:4253800-4254800	Enhancers	Stomach Mucosa	stomach
20	chr6:4253800-4254800	Enhancers	NH-A	brain
21	chr6:4254000-4254800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:4254000-4254800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:4254000-4254800	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:4254000-4254800	Enhancers	NHLF	lung
25	chr6:4254200-4254800	Enhancers	HSMMtube	muscle
26	chr6:4254200-4259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:4254400-4255000	Enhancers	Adipose Nuclei	Adipose
28	chr6:4254400-4258000	Weak transcription	Lung	lung
29	chr6:4254600-4254800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:4254600-4254800	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:4254600-4254800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:4254600-4255000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:4254600-4256800	Weak transcription	Placenta	Placenta
34	chr6:4254600-4258200	Weak transcription	Left Ventricle	heart
35	chr6:4254600-4259600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links