Variant report

Variant	rs445099
Chromosome Location	chr6:118618252-118618253
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:38)

rs_ID	r²[population]
rs11968293	0.86[ASN][1000 genomes]
rs12212582	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1572226	0.86[ASN][1000 genomes]
rs1690662	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1874081	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs188181	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs190756	0.84[ASN][1000 genomes]
rs281861	0.83[ASN][1000 genomes]
rs281864	0.82[ASN][1000 genomes]
rs281867	0.83[ASN][1000 genomes]
rs283040	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283042	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283044	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283045	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs283047	0.84[ASN][1000 genomes]
rs283049	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283050	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283051	0.84[ASN][1000 genomes]
rs283057	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283061	0.85[ASN][1000 genomes]
rs283062	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283066	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283067	0.84[ASN][1000 genomes]
rs369383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376875	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs387266	0.86[ASN][1000 genomes]
rs387945	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs397445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs399844	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs413876	0.85[ASN][1000 genomes]
rs414091	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs419592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422268	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4294041	0.80[ASN][1000 genomes]
rs431115	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs445566	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs450093	0.85[ASN][1000 genomes]
rs4946336	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118613400-118618400	Enhancers	Rectal Smooth Muscle	rectum
2	chr6:118614400-118620200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:118615000-118618800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:118616400-118618600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:118616600-118620000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:118616800-118618600	Enhancers	Liver	Liver
7	chr6:118616800-118620000	Weak transcription	Fetal Stomach	stomach
8	chr6:118617200-118620200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:118617600-118618600	Weak transcription	Aorta	Aorta
10	chr6:118617600-118618600	Enhancers	Fetal Heart	heart
11	chr6:118617600-118619000	Weak transcription	Left Ventricle	heart
12	chr6:118617600-118619000	Weak transcription	Psoas Muscle	Psoas
13	chr6:118617600-118619000	Weak transcription	Right Atrium	heart
14	chr6:118617800-118618800	Enhancers	Brain Anterior Caudate	brain
15	chr6:118618000-118619000	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:118618000-118620000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:118618200-118618600	Enhancers	Brain Substantia Nigra	brain

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