Variant report

Variant	rs6673816
Chromosome Location	chr1:186451947-186451948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186451484..186452471-chr1:186775451..186776233,2	MCF-7	breast:
2	chr1:186451634..186452411-chr1:186954687..186955318,2	MCF-7	breast:
3	chr1:186451532..186452512-chr1:186651563..186652631,6	MCF-7	breast:
4	chr1:186451517..186452045-chr1:186954727..186955454,2	MCF-7	breast:
5	chr1:186451494..186452439-chr1:186955128..186955670,2	K562	blood:
6	chr1:186451636..186452892-chr1:186574338..186575805,5	MCF-7	breast:
7	chr1:186451575..186452285-chr1:186731133..186732059,2	MCF-7	breast:
8	chr1:186451676..186452264-chr1:186649134..186649775,2	MCF-7	breast:
9	chr1:186451520..186452510-chr1:186775360..186775901,2	MCF-7	breast:
10	chr1:186451542..186452284-chr1:186651474..186652178,3	MCF-7	breast:
11	chr1:186451467..186452331-chr1:186574622..186575436,4	MCF-7	breast:
12	chr1:186373386..186374034-chr1:186451869..186452455,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000073756	Chromatin interaction
ENSG00000273129	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10489395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494585	1.00[AMR][1000 genomes]
rs10494588	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12239085	0.87[AMR][1000 genomes]
rs12239322	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12239327	0.87[AMR][1000 genomes]
rs13374147	0.87[AMR][1000 genomes]
rs13374242	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376658	0.87[AMR][1000 genomes]
rs16825187	0.89[AMR][1000 genomes]
rs16825277	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16825282	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16825292	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16825329	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16825448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16825457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1929094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3934201	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41393449	1.00[AFR][1000 genomes]
rs56158125	0.87[AMR][1000 genomes]
rs56888492	1.00[AMR][1000 genomes]
rs57020506	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57488115	0.87[AMR][1000 genomes]
rs58300321	0.87[AMR][1000 genomes]
rs58336827	0.87[AMR][1000 genomes]
rs58410196	0.87[AMR][1000 genomes]
rs59886878	0.86[AFR][1000 genomes]
rs60957652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679283	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6688055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695920	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7355201	0.87[AMR][1000 genomes]
rs7355203	1.00[AMR][1000 genomes]
rs7530502	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547924	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9803910	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186451000-186455800	Weak transcription	Osteobl	bone
2	chr1:186451600-186452000	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:186451600-186452600	Enhancers	Hela-S3	cervix
4	chr1:186451600-186453200	Enhancers	HUVEC	blood vessel
5	chr1:186451800-186452000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:186451800-186452000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:186451800-186452200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:186451800-186452400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:186451800-186452400	Enhancers	NHEK	skin
10	chr1:186451800-186452800	Enhancers	A549	lung

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