Variant report

Variant	rs6006286
Chromosome Location	chr22:30264390-30264391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs2051858	0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2051859	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107672	0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107673	0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57561197	1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	1.00[AMR][1000 genomes]
rs58906954	1.00[AMR][1000 genomes]
rs59632146	1.00[AMR][1000 genomes]
rs59732153	1.00[AMR][1000 genomes]
rs60098050	0.82[AFR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60613378	1.00[AMR][1000 genomes]
rs61310283	1.00[AMR][1000 genomes]
rs7291683	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs73390962	1.00[AMR][1000 genomes]
rs73390967	1.00[AMR][1000 genomes]
rs73390968	1.00[AMR][1000 genomes]
rs73392820	1.00[AMR][1000 genomes]
rs73392847	1.00[AMR][1000 genomes]
rs73392870	1.00[AMR][1000 genomes]
rs73392874	1.00[AMR][1000 genomes]
rs73392878	1.00[AMR][1000 genomes]
rs73392892	1.00[AMR][1000 genomes]
rs73392894	1.00[AMR][1000 genomes]
rs73394839	1.00[AMR][1000 genomes]
rs73394864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394865	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394881	0.85[AFR][1000 genomes]
rs73394884	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394885	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394887	1.00[AMR][1000 genomes]
rs73394890	1.00[AMR][1000 genomes]
rs73394892	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396811	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396818	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396822	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396823	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396826	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396830	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396831	0.87[AFR][1000 genomes]
rs73396841	0.88[AFR][1000 genomes]
rs73396843	0.82[AFR][1000 genomes]
rs73396856	0.82[AFR][1000 genomes]
rs73396863	0.88[AFR][1000 genomes]
rs73396885	0.82[AFR][1000 genomes]
rs73396896	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr22:30258200-30267600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30261200-30265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30263200-30264400	Enhancers	Fetal Brain Female	brain
4	chr22:30263400-30264400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:30263400-30264400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:30263400-30264600	Enhancers	Fetal Heart	heart
7	chr22:30263400-30265000	Enhancers	Fetal Brain Male	brain
8	chr22:30263600-30264400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr22:30263800-30265800	Weak transcription	HMEC	breast
10	chr22:30263800-30265800	Weak transcription	NHEK	skin
11	chr22:30263800-30267600	Weak transcription	Primary monocytes fromperipheralblood	blood

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