Variant report

Variant	rs4144287
Chromosome Location	chr11:121126285-121126286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10437696	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10790422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10790430	0.83[CHB][hapmap];0.89[YRI][hapmap]
rs10790431	0.83[CHB][hapmap];0.89[YRI][hapmap]
rs10892718	0.87[CHB][hapmap];0.84[YRI][hapmap]
rs11218235	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11218239	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11218240	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11607048	0.85[AMR][1000 genomes]
rs12276890	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12289923	0.88[AMR][1000 genomes]
rs12295531	0.82[YRI][hapmap]
rs12419764	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060007	0.84[CHB][hapmap];0.90[YRI][hapmap]
rs4935766	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6589869	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7108763	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121121800-121126400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:121124800-121128200	Weak transcription	NHEK	skin
3	chr11:121125000-121126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:121125000-121128200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:121125000-121128200	Weak transcription	HMEC	breast
6	chr11:121125000-121136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:121125600-121128400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:121126000-121126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:121126000-121127200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:121126200-121126800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:121126200-121127200	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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