Variant report

Variant	rs28968511
Chromosome Location	chr2:234505898-234505899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234505513-234506682..2:234635414-234639782	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000243135	Chromatin interaction
ENSG00000241635	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1597942	1.00[YRI][hapmap]
rs28898577	0.83[YRI][hapmap]
rs28948380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28966994	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28968501	1.00[AMR][1000 genomes]
rs28968512	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28968514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969672	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28969674	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28969678	1.00[AFR][1000 genomes]
rs28969696	1.00[AFR][1000 genomes]
rs28969700	1.00[YRI][hapmap]
rs28969986	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28969989	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28969990	1.00[AFR][1000 genomes]
rs59123908	1.00[AMR][1000 genomes]
rs61158161	1.00[AMR][1000 genomes]
rs6431482	1.00[AMR][1000 genomes]
rs73996106	1.00[AMR][1000 genomes]
rs73996128	1.00[AMR][1000 genomes]
rs73996129	1.00[AMR][1000 genomes]
rs73997634	1.00[AMR][1000 genomes]
rs73997635	1.00[AMR][1000 genomes]
rs73997639	1.00[AMR][1000 genomes]
rs73997640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv3445986	chr2:234494952-234557707	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	nsv876014	chr2:234495742-234545861	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
6	esv3419326	chr2:234498411-234560470	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
7	esv2762307	chr2:234504523-234561979	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234505600-234506200	Enhancers	Esophagus	oesophagus
2	chr2:234505600-234507800	Enhancers	Fetal Kidney	kidney
3	chr2:234505800-234507200	Enhancers	Rectal Mucosa Donor 31	rectum

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