Variant report

Variant	rs2893415
Chromosome Location	chr1:76768447-76768448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11162114	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11162115	0.84[EUR][1000 genomes]
rs12071138	0.83[EUR][1000 genomes]
rs12124295	0.83[EUR][1000 genomes]
rs12124554	0.92[CEU][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs12125121	0.83[EUR][1000 genomes]
rs12125168	0.83[EUR][1000 genomes]
rs12126170	0.84[EUR][1000 genomes]
rs12127441	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127832	0.83[EUR][1000 genomes]
rs12131613	0.81[CEU][hapmap]
rs1335862	0.91[AMR][1000 genomes]
rs1360878	0.91[GIH][hapmap];0.96[MEX][hapmap];0.91[AMR][1000 genomes]
rs1414476	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1414479	0.91[AMR][1000 genomes]
rs1414482	0.93[AMR][1000 genomes]
rs1537783	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17670910	0.81[CEU][hapmap]
rs17671689	0.83[EUR][1000 genomes]
rs2067914	0.91[AMR][1000 genomes]
rs2392036	0.80[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3862899	0.92[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs3862900	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs3862901	0.91[AMR][1000 genomes]
rs3883995	0.91[AMR][1000 genomes]
rs3891339	0.86[AMR][1000 genomes]
rs3916214	0.83[EUR][1000 genomes]
rs4083857	0.91[AMR][1000 genomes]
rs4086568	0.91[AMR][1000 genomes]
rs4245648	0.91[AMR][1000 genomes]
rs4262595	0.84[EUR][1000 genomes]
rs4300269	0.91[AMR][1000 genomes]
rs4480406	0.91[AMR][1000 genomes]
rs4607942	0.91[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs4949700	0.89[AMR][1000 genomes]
rs4949702	0.91[AMR][1000 genomes]
rs4949703	0.90[AMR][1000 genomes]
rs55805865	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55813741	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60579420	0.85[EUR][1000 genomes]
rs6672694	0.92[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs6691694	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6694998	0.84[EUR][1000 genomes]
rs6697478	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs72675971	0.84[EUR][1000 genomes]
rs7534588	0.91[AMR][1000 genomes]
rs9437395	0.96[MEX][hapmap];0.89[AMR][1000 genomes]
rs9437402	0.91[AMR][1000 genomes]
rs9437408	0.85[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2893415	ELTD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76755800-76783000	Weak transcription	Fetal Lung	lung
2	chr1:76760400-76779200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76763800-76768600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:76764000-76769000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:76764000-76769200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:76764000-76769600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:76765000-76769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:76765200-76775400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:76766800-76768800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:76767000-76768800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:76768000-76769200	Enhancers	Brain Substantia Nigra	brain
12	chr1:76768400-76768600	Enhancers	Fetal Thymus	thymus
13	chr1:76768400-76768800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:76768400-76768800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:76768400-76768800	Active TSS	Hela-S3	cervix
16	chr1:76768400-76769200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:76768400-76769200	Enhancers	Psoas Muscle	Psoas
18	chr1:76768400-76769400	Enhancers	Fetal Heart	heart

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