Variant report

Variant	rs13334475
Chromosome Location	chr16:48079476-48079477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11861448	1.00[EUR][1000 genomes]
rs11864016	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864570	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103132	1.00[EUR][1000 genomes]
rs13330281	1.00[EUR][1000 genomes]
rs13330882	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331266	1.00[EUR][1000 genomes]
rs13333718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334423	1.00[EUR][1000 genomes]
rs13335010	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1345425	1.00[EUR][1000 genomes]
rs16945786	1.00[EUR][1000 genomes]
rs16945813	1.00[EUR][1000 genomes]
rs16945816	1.00[EUR][1000 genomes]
rs16945819	1.00[EUR][1000 genomes]
rs16945824	1.00[EUR][1000 genomes]
rs16945828	1.00[EUR][1000 genomes]
rs16945831	1.00[EUR][1000 genomes]
rs16945835	1.00[EUR][1000 genomes]
rs16945839	1.00[EUR][1000 genomes]
rs16945860	1.00[EUR][1000 genomes]
rs2016940	1.00[EUR][1000 genomes]
rs28431782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526661	1.00[EUR][1000 genomes]
rs28531369	1.00[EUR][1000 genomes]
rs28587611	1.00[EUR][1000 genomes]
rs28592871	1.00[EUR][1000 genomes]
rs28669266	1.00[EUR][1000 genomes]
rs34106426	1.00[EUR][1000 genomes]
rs4785405	1.00[EUR][1000 genomes]
rs56093600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124014	1.00[EUR][1000 genomes]
rs57432729	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57740199	1.00[EUR][1000 genomes]
rs58204235	1.00[EUR][1000 genomes]
rs58622309	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59311846	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59312258	1.00[EUR][1000 genomes]
rs59466391	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59528776	1.00[EUR][1000 genomes]
rs59766379	1.00[EUR][1000 genomes]
rs59832329	1.00[EUR][1000 genomes]
rs59966196	1.00[EUR][1000 genomes]
rs6500304	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6500305	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187069	1.00[EUR][1000 genomes]
rs7197701	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203314	1.00[EUR][1000 genomes]
rs73540833	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73540845	1.00[EUR][1000 genomes]
rs73540853	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018249	1.00[EUR][1000 genomes]
rs74018255	1.00[EUR][1000 genomes]
rs8046592	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048367	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056411	0.86[AMR][1000 genomes]
rs8056553	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302750	1.00[EUR][1000 genomes]
rs939360	1.00[EUR][1000 genomes]
rs939362	1.00[EUR][1000 genomes]
rs961668	1.00[EUR][1000 genomes]
rs9925287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926338	1.00[EUR][1000 genomes]
rs9933094	1.00[EUR][1000 genomes]
rs9933277	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935027	1.00[EUR][1000 genomes]
rs9936500	1.00[EUR][1000 genomes]
rs9936532	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938810	1.00[EUR][1000 genomes]
rs9940987	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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1798	chr16:48035871-48080541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3375126	chr16:48075651-48080349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv15426	chr16:48078692-48084956	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48076200-48088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:48077200-48081400	Weak transcription	Spleen	Spleen
3	chr16:48077400-48081200	Weak transcription	Fetal Brain Male	brain
4	chr16:48077400-48086000	Weak transcription	Fetal Brain Female	brain
5	chr16:48077600-48081000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:48078600-48079800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr16:48079200-48079600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr16:48079200-48087200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:48079400-48079600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:48079400-48079800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:48079400-48087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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