Variant report

Variant	rs2749072
Chromosome Location	chr6:102001948-102001949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1040711	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2023169	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2474464	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518216	0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2518307	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2518311	0.83[ASW][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs2749054	1.00[JPT][hapmap]
rs2749073	0.80[AFR][1000 genomes]
rs2749074	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2749075	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs2749077	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2749079	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2749080	1.00[JPT][hapmap]
rs2852571	0.88[ASW][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs2852577	0.88[ASW][hapmap];0.92[YRI][hapmap];0.81[AFR][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	nsv538392	chr6:101938381-102148360	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3384771	chr6:101996253-102283808	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102000200-102003000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:102001600-102002000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:102001800-102002000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:102001800-102002400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:102001800-102002600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:102001800-102002800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:102001800-102003200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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