Variant report

Variant	rs6683478
Chromosome Location	chr1:151567859-151567860
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151429979..151432230-chr1:151567637..151569451,3	MCF-7	breast:
2	chr1:151556628..151559025-chr1:151567592..151570969,4	MCF-7	breast:
3	1:151516085-151535167..1:151565791-151575769	H1-hESC	embryonic stem cell:	embryo
4	chr1:151566931..151569247-chr1:151577793..151580196,2	MCF-7	breast:
5	1:151427826-151434310..1:151565791-151575769	K562	blood:
6	1:151333184-151350267..1:151565791-151575769	GM12878	blood:
7	chr1:151484738..151486460-chr1:151566819..151569782,2	MCF-7	breast:
8	1:151565791-151575769..1:151618750-151636526	K562	blood:
9	1:151254384-151268403..1:151565791-151575769	K562	blood:
10	chr1:151565401..151568572-chr1:151583265..151587748,4	MCF-7	breast:
11	chr1:151567685..151569478-chr1:151820200..151821930,2	MCF-7	breast:
12	chr1:151511423..151515808-chr1:151564689..151570634,14	MCF-7	breast:
13	chr1:151485543..151487847-chr1:151566753..151569094,2	MCF-7	breast:
14	1:151496437-151509688..1:151565791-151575769	K562	blood:
15	1:151411623-151426875..1:151565791-151575769	Hela-S3	cervix:
16	chr1:151511171..151514613-chr1:151564554..151568507,6	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000143367	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000143393	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10888422	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1196359	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1196361	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1196362	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1539492	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1781415	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2337363	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4394658	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4970920	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6660238	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6701819	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6702889	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151555000-151568800	Weak transcription	Liver	Liver
2	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:151556400-151569200	Weak transcription	Pancreas	Pancrea
4	chr1:151559600-151568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:151560000-151568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:151566400-151568400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:151566400-151568800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:151566400-151568800	Enhancers	K562	blood
9	chr1:151566600-151568800	Weak transcription	HMEC	breast
10	chr1:151566600-151574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:151566800-151568600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:151566800-151568600	Weak transcription	NHEK	skin
13	chr1:151566800-151568800	Weak transcription	Placenta	Placenta
14	chr1:151566800-151572000	Weak transcription	Fetal Heart	heart
15	chr1:151567200-151568400	Weak transcription	A549	lung
16	chr1:151567200-151568400	Weak transcription	Hela-S3	cervix
17	chr1:151567200-151569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:151567400-151568600	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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