Variant report

Variant	rs17083818
Chromosome Location	chr5:93947146-93947147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93947075..93949528-chr5:93950936..93953053,2	K562	blood:
2	chr5:93947090..93949494-chr5:93952460..93954440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270133	Chromatin interaction
ENSG00000133302	Chromatin interaction
ENSG00000185261	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10035650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037816	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10039801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041551	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs10043779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051931	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs10053484	1.00[CHB][hapmap]
rs10058618	1.00[CHB][hapmap]
rs10059194	1.00[CHB][hapmap]
rs10072760	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076188	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs10078304	1.00[CHB][hapmap]
rs10476612	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10476613	1.00[CHB][hapmap]
rs10476615	1.00[CHB][hapmap]
rs12517866	1.00[CHB][hapmap]
rs12518034	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12522312	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs13358642	1.00[CHB][hapmap]
rs13361811	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs13362556	1.00[CHB][hapmap]
rs2132547	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs306573	1.00[CHB][hapmap]
rs6873364	1.00[CHB][hapmap]
rs755898	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7725095	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7737779	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv518269	chr5:93943818-93949670	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17083818	C5orf36	cis	cerebellum	SCAN
rs17083818	WTAP	trans	cerebellum	SCAN
rs17083818	ANKRD32	cis	multi-tissue	Pritchard
rs17083818	MCTP1	cis	lymphoblastoid	seeQTL
rs17083818	MCTP1	cis	multi-tissue	Pritchard
rs17083818	MUC13	trans	lymphoblastoid	seeQTL
rs17083818	ARRDC3	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93934600-93951200	Weak transcription	Brain Anterior Caudate	brain
2	chr5:93936800-93950000	Weak transcription	Hela-S3	cervix
3	chr5:93937800-93950800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:93938400-93951200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:93938600-93952400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:93939800-93952400	Weak transcription	Fetal Kidney	kidney
7	chr5:93942800-93950000	Weak transcription	Liver	Liver
8	chr5:93942800-93952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:93942800-93953200	Weak transcription	Aorta	Aorta
10	chr5:93942800-93953200	Weak transcription	Fetal Stomach	stomach
11	chr5:93942800-93953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:93943000-93951200	Weak transcription	Fetal Lung	lung
13	chr5:93946600-93947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:93946600-93947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:93946600-93947400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:93946800-93947400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:93947000-93947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:93947000-93948600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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