Variant report

Variant	rs59944663
Chromosome Location	chr8:48108376-48108377
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48106145..48109361-chr8:48113197..48116087,3	K562	blood:
2	chr8:48102394..48104985-chr8:48106310..48110221,3	MCF-7	breast:
3	chr8:48105532..48109361-chr8:48112947..48117010,3	K562	blood:

Variant related genes	Relation type
ENSG00000255366	Chromatin interaction
ENSG00000215177	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046779	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10092312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10099084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101059	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104075	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110049	1.00[AMR][1000 genomes]
rs10110990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11136098	0.84[AFR][1000 genomes]
rs11990512	0.83[AFR][1000 genomes]
rs11993708	1.00[AMR][1000 genomes]
rs12334352	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13268654	0.84[AFR][1000 genomes]
rs28382309	1.00[AMR][1000 genomes]
rs28393034	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28403378	0.88[AFR][1000 genomes]
rs28408352	1.00[AMR][1000 genomes]
rs28475848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28499454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587193	1.00[AMR][1000 genomes]
rs28631595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28700053	1.00[AMR][1000 genomes]
rs28704586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28713743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28812531	1.00[AMR][1000 genomes]
rs28825726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28846165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28857230	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28897086	1.00[AMR][1000 genomes]
rs56053947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73676120	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73676125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73676311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73676316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7821542	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv890847	chr8:47937950-48124855	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription 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	18 gene(s)	inside rSNPs	diseases
13	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1031982	chr8:47997015-48110595	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48101000-48116000	Weak transcription	Gastric	stomach
2	chr8:48101200-48109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:48101200-48110800	Weak transcription	Aorta	Aorta
4	chr8:48101200-48111600	Weak transcription	Right Atrium	heart
5	chr8:48101200-48115000	Weak transcription	Pancreas	Pancrea
6	chr8:48104000-48108600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:48104000-48110600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:48104000-48115000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:48104200-48109600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:48104200-48113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:48104400-48113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:48106000-48110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:48106000-48114400	Weak transcription	Spleen	Spleen
14	chr8:48107800-48111200	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:48108000-48111000	Enhancers	Primary B cells from cord blood	blood

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