Variant report

Variant	rs17651293
Chromosome Location	chr5:75495279-75495280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75484578..75486755-chr5:75492728..75495660,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12186341	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566351	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66763318	1.00[EUR][1000 genomes]
rs905223	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17651293	SV2C	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75490200-75500200	Weak transcription	Placenta	Placenta
2	chr5:75493600-75495400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:75493800-75500400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:75494000-75495400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:75494600-75496400	Enhancers	Primary T cells from cord blood	blood
6	chr5:75494800-75496000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:75495000-75495400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:75495000-75495600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:75495000-75495800	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:75495000-75495800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:75495000-75495800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:75495000-75495800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:75495000-75496000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:75495000-75496000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:75495200-75495400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:75495200-75495600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:75495200-75495600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:75495200-75495600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:75495200-75495600	Enhancers	Fetal Thymus	thymus
20	chr5:75495200-75495800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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