Variant report

Variant	rs200844
Chromosome Location	chr6:5092485-5092486
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	chr6:5083037..5085353-chr6:5088863..5093171,5	MCF-7	breast:
3	chr6:5087646..5089751-chr6:5090189..5093057,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs200866	1.00[CEU][hapmap]
rs373696	1.00[JPT][hapmap]
rs374117	0.82[AMR][1000 genomes]
rs378359	0.82[CEU][hapmap]
rs379508	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs379511	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs381472	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs385481	0.82[CEU][hapmap]
rs388597	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs392847	1.00[JPT][hapmap]
rs393300	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs393332	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs393628	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs394252	1.00[JPT][hapmap]
rs411483	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs424006	1.00[CEU][hapmap]
rs434706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs438934	1.00[JPT][hapmap]
rs439911	1.00[JPT][hapmap]
rs441463	1.00[JPT][hapmap]
rs441482	1.00[JPT][hapmap]
rs445342	1.00[JPT][hapmap]
rs452908	1.00[JPT][hapmap]
rs453331	1.00[JPT][hapmap]
rs456209	1.00[JPT][hapmap]
rs458108	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs458743	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs461117	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462327	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs465453	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs465481	1.00[CEU][hapmap]
rs466285	0.82[AMR][1000 genomes]
rs591481	1.00[JPT][hapmap]
rs592775	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs606033	1.00[JPT][hapmap]
rs620360	0.82[AMR][1000 genomes]
rs667543	1.00[JPT][hapmap]

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:19 , 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	chr6:5090600-5093600	Weak transcription	Brain Anterior Caudate	brain
3	chr6:5090600-5095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:5090800-5093600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:5091000-5092600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:5091000-5093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:5091000-5094000	Weak transcription	Right Ventricle	heart
8	chr6:5091000-5094200	Weak transcription	Aorta	Aorta
9	chr6:5091000-5095200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:5091000-5108200	Weak transcription	Spleen	Spleen
11	chr6:5091000-5108800	Weak transcription	Right Atrium	heart
12	chr6:5091000-5109000	Weak transcription	Lung	lung
13	chr6:5091200-5093600	Weak transcription	Left Ventricle	heart
14	chr6:5091400-5092800	Enhancers	Thymus	Thymus
15	chr6:5091400-5093000	Weak transcription	Fetal Heart	heart
16	chr6:5091400-5093800	Enhancers	Fetal Thymus	thymus
17	chr6:5091600-5094800	Weak transcription	HepG2	liver
18	chr6:5092400-5092600	Enhancers	GM12878-XiMat	blood
19	chr6:5092400-5093600	Enhancers	Primary T cells from cord blood	blood

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