Variant report

Variant	rs4949714
Chromosome Location	chr1:76856106-76856107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10782614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10782616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10873882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10873884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801997	1.00[AMR][1000 genomes]
rs11802363	1.00[AMR][1000 genomes]
rs11802749	1.00[AMR][1000 genomes]
rs11804628	1.00[AMR][1000 genomes]
rs11806763	1.00[AMR][1000 genomes]
rs11806882	1.00[AMR][1000 genomes]
rs11810412	1.00[AMR][1000 genomes]
rs12037956	1.00[AMR][1000 genomes]
rs4344371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4495763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4515842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4517397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4622117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4642944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4949712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5011133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6421756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9437138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv462006	chr1:76826279-77042405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv546585	chr1:76826279-77042405	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76847600-76857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:76854200-76856400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:76854600-76856200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:76854600-76857000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:76855200-76856200	Weak transcription	Small Intestine	intestine
6	chr1:76855800-76856400	Enhancers	Stomach Mucosa	stomach
7	chr1:76855800-76857400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:76856000-76856200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:76856000-76856400	Enhancers	Fetal Intestine Small	intestine

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