Variant report

Variant	rs10081501
Chromosome Location	chr8:55046843-55046844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:55046839-55048699	SK-N-MC	brain:	n/a	n/a
2	TBP	chr8:55046747-55048024	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:55013205..55015046-chr8:55046385..55049225,2	MCF-7	breast:
2	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
3	chr8:55040333..55042140-chr8:55044755..55047552,2	K562	blood:
4	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
5	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL15	TF binding region
ENSG00000120992	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10087770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10095087	1.00[AMR][1000 genomes]
rs10095679	0.91[YRI][hapmap]
rs10100207	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101967	0.87[MKK][hapmap];0.95[YRI][hapmap]
rs10112111	0.96[YRI][hapmap]
rs10504160	0.87[MKK][hapmap];0.83[YRI][hapmap]
rs16919753	0.96[YRI][hapmap]
rs28452332	0.84[MKK][hapmap]
rs28524857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670350	1.00[AFR][1000 genomes]
rs57873951	1.00[AMR][1000 genomes]
rs73592946	0.97[AFR][1000 genomes]
rs73592947	1.00[AMR][1000 genomes]
rs73592950	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr8:55042000-55047000	Weak transcription	Placenta	Placenta
2	chr8:55046800-55047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:55046800-55047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:55046800-55047000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:55046800-55047000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:55046800-55047000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr8:55046800-55047000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr8:55046800-55047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:55046800-55047000	Enhancers	Brain Angular Gyrus	brain
10	chr8:55046800-55047000	Enhancers	Brain Anterior Caudate	brain
11	chr8:55046800-55047000	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:55046800-55047000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:55046800-55047000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:55046800-55047000	Enhancers	Fetal Brain Female	brain
15	chr8:55046800-55047000	Enhancers	Fetal Intestine Large	intestine
16	chr8:55046800-55047000	Enhancers	Fetal Intestine Small	intestine
17	chr8:55046800-55047000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr8:55046800-55047000	Enhancers	Stomach Mucosa	stomach
19	chr8:55046800-55047000	Enhancers	Dnd41	blood
20	chr8:55046800-55047000	Flanking Active TSS	HepG2	liver
21	chr8:55046800-55047200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:55046800-55047400	Flanking Active TSS	Liver	Liver
23	chr8:55046800-55047400	Flanking Active TSS	A549	lung
24	chr8:55046800-55047600	Flanking Active TSS	GM12878-XiMat	blood
25	chr8:55046800-55048800	Active TSS	K562	blood

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