Variant report

Variant	rs28591099
Chromosome Location	chr14:104939147-104939148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11845888	0.85[EUR][1000 genomes]
rs11849605	0.87[EUR][1000 genomes]
rs28399812	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28497781	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28502730	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28511273	0.85[EUR][1000 genomes]
rs28632777	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28645503	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28666641	0.85[EUR][1000 genomes]
rs28684681	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28691880	0.85[EUR][1000 genomes]
rs28795480	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28797843	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28822395	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28828521	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28873160	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35769770	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4983504	0.80[EUR][1000 genomes]
rs56833004	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56887135	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57820405	0.85[EUR][1000 genomes]
rs59985194	0.85[EUR][1000 genomes]
rs6576039	0.85[EUR][1000 genomes]
rs6576040	0.85[EUR][1000 genomes]
rs7142996	0.85[EUR][1000 genomes]
rs73352192	0.85[EUR][1000 genomes]
rs73354005	0.80[EUR][1000 genomes]
rs73354008	0.80[EUR][1000 genomes]
rs8005770	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8006069	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8010930	0.85[EUR][1000 genomes]
rs8011660	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826669	chr14:104554461-105065941	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1049810	chr14:104577600-105060539	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv2751159	chr14:104778024-104986402	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2761599	chr14:104789113-105067734	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv456444	chr14:104792254-104952144	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv566043	chr14:104792254-104952144	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2751161	chr14:104807712-104962955	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv902368	chr14:104839816-104947517	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv519840	chr14:104884605-104961635	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv902369	chr14:104896538-104983655	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv902370	chr14:104907273-104967252	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3450429	chr14:104936207-104939905	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3333954	chr14:104936607-104939905	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104938600-104940400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104938600-104940400	Weak transcription	Fetal Brain Female	brain
3	chr14:104938800-104939200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:104938800-104942600	Enhancers	Brain Germinal Matrix	brain
5	chr14:104939000-104940800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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