Variant report

Variant	rs3100248
Chromosome Location	chr4:86290991-86290992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11938951	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11942122	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11943183	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11946344	0.98[ASN][1000 genomes]
rs12639935	0.98[ASN][1000 genomes]
rs12640011	0.98[ASN][1000 genomes]
rs12645977	0.98[ASN][1000 genomes]
rs13104383	0.98[ASN][1000 genomes]
rs13122740	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13122850	0.98[ASN][1000 genomes]
rs13122917	0.98[ASN][1000 genomes]
rs13128292	0.98[ASN][1000 genomes]
rs13129734	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13142634	0.98[ASN][1000 genomes]
rs13145044	0.98[ASN][1000 genomes]
rs13145084	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13151287	0.88[ASN][1000 genomes]
rs145115	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3113573	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34140922	0.97[ASN][1000 genomes]
rs34654747	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34718320	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34821291	0.98[ASN][1000 genomes]
rs34960288	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35094745	0.98[ASN][1000 genomes]
rs35164969	0.97[ASN][1000 genomes]
rs35275174	0.98[ASN][1000 genomes]
rs35718554	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35799894	0.98[ASN][1000 genomes]
rs375905	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs383674	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs398163	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs405513	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs406917	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs412856	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs429596	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs438840	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs443421	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs446740	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs447772	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59732269	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62317610	0.98[ASN][1000 genomes]
rs67340755	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827059	0.98[ASN][1000 genomes]
rs6827288	0.98[ASN][1000 genomes]
rs732312	0.98[ASN][1000 genomes]
rs732313	0.98[ASN][1000 genomes]
rs736359	0.98[ASN][1000 genomes]
rs7660431	0.98[ASN][1000 genomes]
rs7660532	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661421	0.98[ASN][1000 genomes]
rs7680652	0.98[ASN][1000 genomes]
rs7686344	0.98[ASN][1000 genomes]
rs921603	0.98[ASN][1000 genomes]
rs921604	0.98[ASN][1000 genomes]
rs996909	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs996910	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv427685	chr4:86032872-86340548	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3331664	chr4:86234879-86421961	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2760861	chr4:86241278-86324115	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86284000-86291200	Weak transcription	Pancreas	Pancrea
2	chr4:86288200-86291800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:86288600-86292000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:86288800-86292000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:86289000-86291000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:86289400-86292000	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:86289600-86291400	Enhancers	Primary B cells from cord blood	blood
8	chr4:86289600-86291800	Enhancers	Adipose Nuclei	Adipose
9	chr4:86289800-86291000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:86289800-86291200	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:86289800-86291800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:86290200-86291200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:86290400-86291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:86290800-86291200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:86290800-86291400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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