Variant report

Variant	rs16754
Chromosome Location	chr11:32417945-32417946
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	chr11:32402052..32403912-chr11:32416610..32418334,2	K562	blood:
2	chr11:32417288..32419262-chr11:32603773..32605536,2	K562	blood:

Variant related genes	Relation type
ENSG00000149100	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10767933	0.92[ASN][1000 genomes]
rs10767934	0.80[ASN][1000 genomes]
rs10835893	0.92[ASN][1000 genomes]
rs10835897	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835904	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs11031754	0.80[JPT][hapmap]
rs11031755	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11031763	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11824258	0.80[ASN][1000 genomes]
rs12290546	0.92[ASN][1000 genomes]
rs12365223	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12365511	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1569776	0.84[CHB][hapmap];0.82[MEX][hapmap]
rs1799937	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2234587	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2295081	0.90[ASN][1000 genomes]
rs2295082	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3818055	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3847589	0.84[CHB][hapmap]
rs3858445	0.88[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4140414	0.80[ASN][1000 genomes]
rs5030201	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs5030203	0.95[JPT][hapmap]
rs5030207	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs5030218	0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs5030234	0.84[CHB][hapmap]
rs5030277	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030280	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030281	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030310	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5030317	0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs5030320	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs59666608	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6484574	0.92[ASN][1000 genomes]
rs6484575	0.92[ASN][1000 genomes]
rs6484576	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6484577	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7107082	0.90[ASN][1000 genomes]
rs7115190	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16754	CD59	cis	cerebellum	SCAN
rs16754	PAMR1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32408600-32421600	Weak transcription	Left Ventricle	heart
2	chr11:32409400-32422000	Weak transcription	Fetal Kidney	kidney
3	chr11:32412200-32418000	Weak transcription	Spleen	Spleen
4	chr11:32412600-32421800	Strong transcription	K562	blood
5	chr11:32414400-32418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:32414800-32424200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:32415200-32418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:32415200-32418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:32415400-32418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:32416200-32418600	Enhancers	Fetal Heart	heart
11	chr11:32417200-32419000	Flanking Active TSS	Dnd41	blood
12	chr11:32417600-32422200	Strong transcription	Ovary	ovary
13	chr11:32417800-32418200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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