Variant report

Variant	rs7514851
Chromosome Location	chr1:76742942-76742943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76741346..76744130-chr1:76749152..76752097,2	K562	blood:
2	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:
3	chr1:76739718..76741247-chr1:76741551..76743104,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11162109	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403092	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1335862	0.82[ASN][1000 genomes]
rs1335863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360878	0.81[ASN][1000 genomes]
rs1414479	0.81[ASN][1000 genomes]
rs1414480	0.92[ASN][1000 genomes]
rs1414481	0.80[ASN][1000 genomes]
rs1414482	0.82[ASN][1000 genomes]
rs1414483	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1414484	0.92[ASN][1000 genomes]
rs1414485	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1414487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1537783	0.80[ASN][1000 genomes]
rs17098538	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2065794	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2067914	0.81[ASN][1000 genomes]
rs2210830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2210831	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2225784	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2225785	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862901	0.81[ASN][1000 genomes]
rs3883995	0.81[ASN][1000 genomes]
rs3891339	0.81[ASN][1000 genomes]
rs3920772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4083857	0.81[ASN][1000 genomes]
rs4086568	0.81[ASN][1000 genomes]
rs4300269	0.81[ASN][1000 genomes]
rs4480406	0.81[ASN][1000 genomes]
rs4607942	0.81[ASN][1000 genomes]
rs4949700	0.83[ASN][1000 genomes]
rs4949702	0.82[ASN][1000 genomes]
rs4949703	0.80[ASN][1000 genomes]
rs6593527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593528	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6657540	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6675148	0.81[ASN][1000 genomes]
rs6695042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6702605	0.86[ASN][1000 genomes]
rs7516589	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7534588	0.81[ASN][1000 genomes]
rs9437391	0.86[EUR][1000 genomes]
rs9437395	0.85[ASN][1000 genomes]
rs9437402	0.81[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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76727400-76744800	Weak transcription	Aorta	Aorta
2	chr1:76735000-76743400	Weak transcription	Fetal Kidney	kidney
3	chr1:76735200-76744600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76735200-76745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76735400-76744200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
7	chr1:76736400-76744400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:76736600-76745000	Weak transcription	Right Atrium	heart
9	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:76740800-76744600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:76740800-76744600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:76741400-76744600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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