Variant report

Variant	rs28364319
Chromosome Location	chr4:100204226-100204227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17028473	1.00[AMR][1000 genomes]
rs17028505	1.00[AMR][1000 genomes]
rs17028834	1.00[AMR][1000 genomes]
rs28720147	0.88[AFR][1000 genomes]
rs28730571	1.00[AMR][1000 genomes]
rs28730610	1.00[AMR][1000 genomes]
rs29001339	1.00[AMR][1000 genomes]
rs29001631	1.00[AMR][1000 genomes]
rs55820222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55890003	0.88[AFR][1000 genomes]
rs59728850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6532799	1.00[AMR][1000 genomes]
rs6820445	0.88[AFR][1000 genomes]
rs6828819	1.00[AMR][1000 genomes]
rs6831854	1.00[AMR][1000 genomes]
rs6835771	1.00[AMR][1000 genomes]
rs72897134	1.00[AMR][1000 genomes]
rs72899248	0.83[AFR][1000 genomes]
rs72901221	0.87[AFR][1000 genomes]
rs72901222	0.88[AFR][1000 genomes]
rs72901271	1.00[AMR][1000 genomes]
rs72901287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72901294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72901295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664906	1.00[AMR][1000 genomes]
rs7684674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7689911	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3353320	chr4:100147870-100425701	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3394995	chr4:100147890-100425671	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3411695	chr4:100199821-100231279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3430082	chr4:100200579-100232001	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3427017	chr4:100200905-100232354	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv980233	chr4:100203481-100205555	Genic enhancers Weak transcription Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100189400-100212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:100192400-100205600	Weak transcription	Aorta	Aorta
3	chr4:100196200-100210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:100197600-100205000	Strong transcription	Liver	Liver
5	chr4:100198000-100214600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:100203000-100209200	Weak transcription	Fetal Lung	lung
7	chr4:100204200-100214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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