Variant report

Variant	rs11118530
Chromosome Location	chr1:220509042-220509043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11118523	0.85[AMR][1000 genomes]
rs11118524	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118528	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118532	0.81[EUR][1000 genomes]
rs17641563	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6673738	0.84[AMR][1000 genomes]
rs6689734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9803782	0.93[AMR][1000 genomes];0.98[EUR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220503200-220510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:220505200-220510600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:220507400-220509600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:220507400-220509600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:220508400-220510000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:220508600-220511400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:220508800-220509400	Enhancers	Esophagus	oesophagus
10	chr1:220508800-220509400	Enhancers	Gastric	stomach
11	chr1:220508800-220511400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:220508800-220511400	Enhancers	HMEC	breast
13	chr1:220509000-220509200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:220509000-220509400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:220509000-220509400	Enhancers	Aorta	Aorta
16	chr1:220509000-220510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:220509000-220511000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:220509000-220511200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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