Variant report

Variant	rs9437395
Chromosome Location	chr1:76744618-76744619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11162109	0.88[ASN][1000 genomes]
rs11162114	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12124554	0.81[CEU][hapmap]
rs12127441	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12131613	0.92[CEU][hapmap]
rs12403092	0.83[ASN][1000 genomes]
rs1335862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1335863	0.87[ASN][1000 genomes]
rs1335864	0.87[ASN][1000 genomes]
rs1360878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1414476	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1414479	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1414480	0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.85[ASN][1000 genomes]
rs1414481	0.95[ASN][1000 genomes]
rs1414482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1414483	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1414484	0.91[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1414485	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1414487	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1537783	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537784	0.82[JPT][hapmap]
rs17098538	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17670910	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs2065794	0.86[ASN][1000 genomes]
rs2067914	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2225784	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2392036	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2392037	0.83[JPT][hapmap]
rs2893415	0.96[MEX][hapmap];0.89[AMR][1000 genomes]
rs3851267	0.88[JPT][hapmap]
rs3862899	0.81[CEU][hapmap]
rs3862900	0.81[CEU][hapmap]
rs3862901	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3883995	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3891339	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3904687	0.88[JPT][hapmap]
rs3920772	0.86[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs4083857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4086568	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4245648	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4300269	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4480406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4607942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4949703	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55805865	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55813741	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6593527	0.86[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6593528	0.85[ASN][1000 genomes]
rs6657540	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6672694	0.81[CEU][hapmap]
rs6675148	0.96[ASN][1000 genomes]
rs6691694	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6695042	0.86[ASN][1000 genomes]
rs6697478	0.81[CEU][hapmap]
rs6700436	0.92[ASN][1000 genomes]
rs6702605	0.98[ASN][1000 genomes]
rs7514851	0.85[ASN][1000 genomes]
rs7516589	0.86[ASN][1000 genomes]
rs7534588	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9437402	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9437407	0.88[JPT][hapmap]
rs9437408	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
rs9437395	ELTD1	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76727400-76744800	Weak transcription	Aorta	Aorta
2	chr1:76735200-76745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
4	chr1:76736600-76745000	Weak transcription	Right Atrium	heart
5	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
6	chr1:76743600-76745200	Weak transcription	Brain Anterior Caudate	brain
7	chr1:76744200-76745600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:76744400-76744800	Enhancers	Fetal Kidney	kidney
9	chr1:76744400-76744800	Enhancers	Fetal Lung	lung
10	chr1:76744400-76745000	Enhancers	Brain Substantia Nigra	brain
11	chr1:76744400-76745200	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:76744600-76744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:76744600-76744800	Enhancers	Stomach Smooth Muscle	stomach
14	chr1:76744600-76745000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:76744600-76745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:76744600-76745000	Enhancers	Fetal Brain Male	brain
17	chr1:76744600-76745200	Enhancers	Brain Hippocampus Middle	brain
18	chr1:76744600-76745400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:76744600-76745400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:76744600-76745400	Enhancers	Fetal Thymus	thymus
21	chr1:76744600-76745800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:76744600-76746200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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