Variant report

Variant	rs17445098
Chromosome Location	chr12:40839382-40839383
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40839321-40839446	NONHSAT027728

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10506154	1.00[CEU][hapmap]
rs11564145	1.00[CEU][hapmap]
rs11564152	1.00[CEU][hapmap]
rs11564185	1.00[CEU][hapmap]
rs11564209	1.00[CEU][hapmap]
rs11564253	1.00[CEU][hapmap]
rs11564255	1.00[CEU][hapmap]
rs11564256	1.00[CEU][hapmap]
rs11564266	1.00[CEU][hapmap]
rs11564271	1.00[CEU][hapmap]
rs12422390	1.00[CEU][hapmap]
rs12422796	1.00[CEU][hapmap]
rs12423986	1.00[CEU][hapmap]
rs12424424	1.00[CEU][hapmap]
rs12425677	1.00[CEU][hapmap]
rs12425678	1.00[CEU][hapmap]
rs12426639	1.00[CEU][hapmap]
rs12426903	1.00[CEU][hapmap]
rs12427134	1.00[CEU][hapmap]
rs12427245	1.00[CEU][hapmap]
rs1365768	1.00[CEU][hapmap]
rs1365769	1.00[CEU][hapmap]
rs1463717	1.00[CEU][hapmap]
rs17443546	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17443600	1.00[CEU][hapmap]
rs17443656	1.00[CEU][hapmap]
rs17444075	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17444103	1.00[CEU][hapmap]
rs17444646	1.00[CEU][hapmap]
rs17444667	1.00[CEU][hapmap]
rs17444688	1.00[CEU][hapmap]
rs17444744	1.00[CEU][hapmap]
rs17444751	1.00[CEU][hapmap]
rs17466009	1.00[CHB][hapmap]
rs17466016	1.00[CEU][hapmap]
rs17466227	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466444	1.00[CHB][hapmap]
rs17466626	1.00[CEU][hapmap]
rs17466907	1.00[CEU][hapmap]
rs17466969	1.00[CEU][hapmap]
rs17467039	1.00[CEU][hapmap]
rs17467046	0.91[CHB][hapmap]
rs17467081	1.00[CEU][hapmap]
rs17467088	1.00[CEU][hapmap]
rs17467102	1.00[CEU][hapmap]
rs17467116	1.00[CEU][hapmap]
rs17467137	1.00[CEU][hapmap]
rs17467144	1.00[CEU][hapmap]
rs17484493	1.00[CEU][hapmap]
rs17490928	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17492152	1.00[CEU][hapmap]
rs17492173	1.00[CHB][hapmap]
rs2017917	1.00[CEU][hapmap]
rs28365229	1.00[CEU][hapmap]
rs28365241	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3751170	0.81[EUR][1000 genomes]
rs3751171	0.81[EUR][1000 genomes]
rs3751174	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3789329	1.00[CEU][hapmap]
rs3899331	1.00[CEU][hapmap]
rs4628750	1.00[CEU][hapmap]
rs4768226	1.00[CEU][hapmap]
rs4768248	1.00[CEU][hapmap]
rs4768249	1.00[CEU][hapmap]
rs4768251	1.00[CEU][hapmap]
rs4768254	1.00[CEU][hapmap]
rs61736778	1.00[EUR][1000 genomes]
rs7485401	1.00[CEU][hapmap]
rs7487209	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1039272	chr12:40817585-40841318	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv558606	chr12:40837331-40863052	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40839000-40841000	Enhancers	Fetal Heart	heart

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