Variant report

Variant	rs484757
Chromosome Location	chr6:44247951-44247952
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44247321..44249117-chr6:44305925..44308606,2	K562	blood:
2	chr6:44247780..44249654-chr6:44347514..44350331,2	MCF-7	breast:
3	chr6:44241706..44244542-chr6:44247221..44249116,2	K562	blood:
4	chr6:44218284..44220529-chr6:44245737..44248660,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12193699	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs161706	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324136	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324143	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325006	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325007	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325008	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325009	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325010	0.82[EUR][1000 genomes]
rs325011	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35260018	0.96[EUR][1000 genomes]
rs4308546	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4714775	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs482336	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs541668	0.89[AMR][1000 genomes]
rs567192	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs568902	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61462867	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs650075	1.00[EUR][1000 genomes]
rs7740535	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357439	0.84[AMR][1000 genomes]
rs9472241	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472243	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472244	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44241200-44252200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:44244200-44250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:44244400-44251000	Weak transcription	Gastric	stomach
4	chr6:44244400-44257400	Weak transcription	Pancreas	Pancrea
5	chr6:44244400-44264800	Weak transcription	Right Atrium	heart
6	chr6:44244800-44248000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:44245000-44251000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:44245200-44250000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:44245800-44252200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:44246400-44255400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:44246800-44255400	Weak transcription	Brain Germinal Matrix	brain
12	chr6:44247000-44252400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:44247600-44248400	Weak transcription	Fetal Brain Male	brain
14	chr6:44247800-44250200	Weak transcription	Fetal Brain Female	brain

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