Variant report

Variant	rs683944
Chromosome Location	chr6:145461832-145461833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1007379	0.87[EUR][1000 genomes]
rs13192528	0.89[EUR][1000 genomes]
rs2328639	0.92[EUR][1000 genomes]
rs2761089	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2788713	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2788720	0.87[EUR][1000 genomes]
rs477572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs480110	0.87[EUR][1000 genomes]
rs499988	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs510141	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs512985	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs514258	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515224	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519680	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs521471	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs526564	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs529733	0.87[EUR][1000 genomes]
rs539661	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs540319	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs544904	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs559299	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs561083	0.87[EUR][1000 genomes]
rs565687	0.87[EUR][1000 genomes]
rs572490	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs584911	0.87[EUR][1000 genomes]
rs605757	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs607623	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs609639	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs620561	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs621529	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623736	0.86[EUR][1000 genomes]
rs625054	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs630099	0.87[EUR][1000 genomes]
rs632526	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635627	0.87[EUR][1000 genomes]
rs636367	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs637348	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs648664	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs649933	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs650555	0.86[EUR][1000 genomes]
rs669469	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669890	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs674575	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830834	chr6:145392073-145556294	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv886743	chr6:145433861-145528057	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv886744	chr6:145452401-145528057	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145461000-145462800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:145461000-145463400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:145461200-145462000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:145461400-145462200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:145461400-145463000	Enhancers	Brain Germinal Matrix	brain
6	chr6:145461400-145469200	Weak transcription	Adipose Nuclei	Adipose
7	chr6:145461600-145462200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:145461600-145468400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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