Variant report

Variant	rs2746229
Chromosome Location	chr6:5091499-5091500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5091491..5094121-chr6:5097856..5100498,2	K562	blood:
2	chr6:5080171..5082939-chr6:5089292..5092079,2	MCF-7	breast:
3	chr6:5083037..5085353-chr6:5088863..5093171,5	MCF-7	breast:
4	chr6:5087646..5089751-chr6:5090189..5093057,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10484845	0.87[CEU][hapmap]
rs17139385	0.91[EUR][1000 genomes]
rs17139431	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs17139533	0.83[CEU][hapmap]
rs17139551	0.87[CEU][hapmap]
rs2746230	0.97[ASN][1000 genomes]
rs457094	0.84[ASN][1000 genomes]
rs56838333	0.86[EUR][1000 genomes]
rs57686024	0.89[EUR][1000 genomes]
rs57697533	0.92[EUR][1000 genomes]
rs60464046	0.89[EUR][1000 genomes]
rs6597112	0.95[EUR][1000 genomes]
rs6924197	0.87[CEU][hapmap]
rs73717650	0.92[EUR][1000 genomes]
rs73717652	0.92[EUR][1000 genomes]
rs73717656	0.92[EUR][1000 genomes]
rs73717664	0.87[EUR][1000 genomes]
rs7754867	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs9502268	0.91[EUR][1000 genomes]
rs9504333	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5090000-5092600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:5090400-5091600	Enhancers	Fetal Muscle Leg	muscle
3	chr6:5090400-5092400	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:5090600-5091600	Enhancers	Adipose Nuclei	Adipose
5	chr6:5090600-5093600	Weak transcription	Brain Anterior Caudate	brain
6	chr6:5090600-5095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:5090800-5091600	Enhancers	Primary T cells from cord blood	blood
8	chr6:5090800-5091600	Genic enhancers	HepG2	liver
9	chr6:5090800-5093600	Weak transcription	Brain Substantia Nigra	brain
10	chr6:5091000-5092600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:5091000-5093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:5091000-5094000	Weak transcription	Right Ventricle	heart
13	chr6:5091000-5094200	Weak transcription	Aorta	Aorta
14	chr6:5091000-5095200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:5091000-5108200	Weak transcription	Spleen	Spleen
16	chr6:5091000-5108800	Weak transcription	Right Atrium	heart
17	chr6:5091000-5109000	Weak transcription	Lung	lung
18	chr6:5091200-5091600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:5091200-5093600	Weak transcription	Left Ventricle	heart
20	chr6:5091400-5091600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:5091400-5091800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr6:5091400-5092400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:5091400-5092800	Enhancers	Thymus	Thymus
24	chr6:5091400-5093000	Weak transcription	Fetal Heart	heart
25	chr6:5091400-5093800	Enhancers	Fetal Thymus	thymus

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