Variant report

Variant	rs6083035
Chromosome Location	chr20:23181354-23181355
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23038451..23039596-chr20:23181254..23182191,4	MCF-7	breast:
2	chr20:23122546..23124571-chr20:23180527..23183160,2	MCF-7	breast:
3	chr20:23002066..23002869-chr20:23181325..23182243,3	MCF-7	breast:
4	chr20:23128719..23130340-chr20:23179847..23182584,2	K562	blood:
5	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:
6	chr20:22672036..22672960-chr20:23181325..23182023,4	MCF-7	breast:
7	chr20:23066160..23068194-chr20:23180754..23182978,2	K562	blood:
8	chr20:22670744..22673575-chr20:23180710..23182466,2	MCF-7	breast:
9	chr20:23031492..23032347-chr20:23180782..23182215,4	K562	blood:
10	chr20:23180909..23182813-chr20:23193435..23195375,2	MCF-7	breast:
11	chr20:23031273..23031851-chr20:23181325..23181849,2	MCF-7	breast:
12	chr20:23180782..23182510-chr20:23188143..23190298,2	MCF-7	breast:
13	chr20:23031208..23032750-chr20:23180279..23182634,2	MCF-7	breast:
14	chr20:22672377..22672995-chr20:23181234..23182214,2	K562	blood:
15	chr20:23031208..23032065-chr20:23181288..23182112,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17682830	0.82[YRI][hapmap]
rs6076036	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083045	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6083046	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6106615	0.84[GIH][hapmap]
rs6132582	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6137856	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137866	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6137876	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7273853	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6083035	RP4-737E23.2	cis	Thyroid	GTEx
rs6083035	RP4-737E23.2	cis	lung	GTEx
rs6083035	RP4-737E23.2	cis	Whole Blood	GTEx
rs6083035	RP4-737E23.2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23178800-23182600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr20:23179200-23183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr20:23179400-23183600	Weak transcription	NHDF-Ad	bronchial
4	chr20:23179800-23181400	Weak transcription	K562	blood
5	chr20:23180200-23181800	Enhancers	GM12878-XiMat	blood
6	chr20:23180200-23182200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:23180400-23181800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr20:23180400-23182600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr20:23180800-23184800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:23181200-23181800	Enhancers	Esophagus	oesophagus
11	chr20:23181200-23181800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr20:23181200-23182000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:23181200-23182000	Enhancers	Lung	lung
14	chr20:23181200-23182200	Enhancers	Placenta	Placenta
15	chr20:23181200-23182600	Enhancers	Left Ventricle	heart
16	chr20:23181200-23183800	Enhancers	Right Ventricle	heart

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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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