Variant report

Variant	rs17670910
Chromosome Location	chr1:76750080-76750081
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	chr1:76741346..76744130-chr1:76749152..76752097,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11162115	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12071138	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12124295	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12124554	0.87[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12125121	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12125168	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12126170	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12127832	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12131613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1335862	0.81[EUR][1000 genomes]
rs1360878	0.92[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1414479	0.81[EUR][1000 genomes]
rs1414482	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1537783	0.81[CEU][hapmap]
rs17671689	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2065793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2067914	0.81[EUR][1000 genomes]
rs2210832	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2893415	0.81[CEU][hapmap]
rs35517533	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3862899	0.87[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3862900	0.88[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3883995	0.81[EUR][1000 genomes]
rs3916214	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4083857	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4086568	0.81[EUR][1000 genomes]
rs4245648	0.81[EUR][1000 genomes]
rs4262595	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4290109	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4290110	0.92[YRI][hapmap]
rs4300269	0.81[EUR][1000 genomes]
rs4480406	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4607942	0.92[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs4949702	0.81[EUR][1000 genomes]
rs55930988	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60579420	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6672694	0.87[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6694998	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6697478	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72675958	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72675960	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72675971	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7534588	0.81[EUR][1000 genomes]
rs9437395	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs9437402	0.81[EUR][1000 genomes]
rs9437408	0.81[CEU][hapmap]

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
rs17670910	ELTD1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
2	chr1:76745400-76750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:76745400-76751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76745600-76761000	Weak transcription	Aorta	Aorta
5	chr1:76745800-76750600	Weak transcription	Fetal Kidney	kidney
6	chr1:76745800-76755400	Weak transcription	Fetal Lung	lung
7	chr1:76746200-76750400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:76747400-76750400	Weak transcription	Fetal Thymus	thymus
9	chr1:76747400-76756200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:76747600-76756400	Weak transcription	Fetal Brain Male	brain
11	chr1:76747600-76757000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76747800-76750800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:76747800-76756200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:76747800-76756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:76749200-76760000	Enhancers	Primary T cells from cord blood	blood
16	chr1:76749400-76750600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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