Variant report

Variant	rs6684225
Chromosome Location	chr1:154493721-154493722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10752642	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs11265605	1.00[EUR][1000 genomes]
rs11265627	0.85[YRI][hapmap]
rs11265630	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs4072391	0.84[YRI][hapmap]
rs4078519	1.00[EUR][1000 genomes]
rs4240873	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4288587	0.84[YRI][hapmap]
rs4393148	0.88[ASW][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4474240	0.90[MKK][hapmap];0.81[YRI][hapmap]
rs4518898	0.85[YRI][hapmap]
rs4520411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845632	0.94[ASW][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845646	0.94[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs6427694	0.82[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6427716	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs6670375	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs6678164	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681961	0.94[AFR][1000 genomes]
rs6683078	0.94[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687112	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs6691727	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs7513603	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs7515974	0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7530737	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537595	1.00[EUR][1000 genomes]
rs7539745	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9659545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728545	0.93[AFR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	esv1822921	chr1:154474131-154495697	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154488600-154497400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:154492000-154493800	Enhancers	Left Ventricle	heart
3	chr1:154492000-154493800	Enhancers	Right Atrium	heart
4	chr1:154492000-154494000	Enhancers	Placenta	Placenta
5	chr1:154492000-154494800	Enhancers	Adipose Nuclei	Adipose
6	chr1:154492000-154494800	Enhancers	Right Ventricle	heart
7	chr1:154492000-154495200	Enhancers	Lung	lung
8	chr1:154492200-154494000	Enhancers	Spleen	Spleen
9	chr1:154492400-154493800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:154492400-154495000	Enhancers	HUVEC	blood vessel
11	chr1:154492600-154497200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:154492600-154497200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:154492800-154494000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr1:154492800-154497800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:154492800-154521400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:154493200-154495200	Enhancers	Fetal Heart	heart
17	chr1:154493400-154495400	Weak transcription	Psoas Muscle	Psoas
18	chr1:154493600-154493800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr1:154493600-154494000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr1:154493600-154494800	Enhancers	Liver	Liver

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