Variant report

Variant	rs4607942
Chromosome Location	chr1:76750428-76750429
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: 66 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11162109	0.84[ASN][1000 genomes]
rs11162114	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12124554	0.81[CEU][hapmap]
rs12127441	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12131613	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1335862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335863	0.83[ASN][1000 genomes]
rs1335864	0.83[ASN][1000 genomes]
rs1360878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414476	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414479	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414480	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1414481	0.99[ASN][1000 genomes]
rs1414482	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];0.98[ASN][1000 genomes]
rs1414483	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1414484	0.91[CHB][hapmap];0.94[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];0.82[ASN][1000 genomes]
rs1537783	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[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];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs2065793	0.81[EUR][1000 genomes]
rs2065794	0.86[ASN][1000 genomes]
rs2067914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225784	0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2392036	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2392037	0.83[JPT][hapmap]
rs2893415	0.91[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs3851267	0.88[JPT][hapmap]
rs3862899	0.81[CEU][hapmap]
rs3862900	0.81[CEU][hapmap]
rs3862901	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3883995	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891339	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904687	0.88[JPT][hapmap]
rs3920772	0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4083857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4086568	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245648	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4300269	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949700	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4949702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949703	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55805865	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55813741	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593527	0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6593528	0.80[ASN][1000 genomes]
rs6657540	0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6672694	0.81[CEU][hapmap]
rs6675148	0.91[ASN][1000 genomes]
rs6691694	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695042	0.82[ASN][1000 genomes]
rs6697478	0.81[CEU][hapmap]
rs6700436	0.96[ASN][1000 genomes]
rs6702605	0.93[ASN][1000 genomes]
rs7514851	0.81[ASN][1000 genomes]
rs7516589	0.82[ASN][1000 genomes]
rs7534588	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437395	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]
rs9437402	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437407	0.88[JPT][hapmap]
rs9437408	0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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
rs4607942	ELTD1	cis	cerebellum	SCAN

Chromatin state (count:23 , 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	chr1:76747400-76756200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:76747600-76756400	Weak transcription	Fetal Brain Male	brain
9	chr1:76747600-76757000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:76747800-76750800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:76747800-76756200	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:76747800-76756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:76749200-76760000	Enhancers	Primary T cells from cord blood	blood
14	chr1:76749400-76750600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:76750200-76760200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:76750400-76751200	Enhancers	HUVEC	blood vessel
17	chr1:76750400-76752000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:76750400-76752600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:76750400-76752600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:76750400-76757200	Enhancers	Fetal Thymus	thymus
21	chr1:76750400-76760200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:76750400-76760600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:76750400-76762000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links