Variant report

Variant	rs1893881
Chromosome Location	chr4:100131923-100131924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10014222	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017466	1.00[CHD][hapmap]
rs1126670	1.00[CHD][hapmap]
rs1126671	1.00[CHD][hapmap]
rs1126673	1.00[CHD][hapmap]
rs1229968	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1229983	1.00[AMR][1000 genomes]
rs1229985	1.00[AMR][1000 genomes]
rs1229986	0.93[AMR][1000 genomes]
rs1229988	1.00[AMR][1000 genomes]
rs1230015	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230021	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1230024	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230029	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1230030	0.93[AMR][1000 genomes]
rs1235416	1.00[AMR][1000 genomes]
rs1540053	1.00[CHD][hapmap]
rs1573495	1.00[CHD][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1789875	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1789877	1.00[AMR][1000 genomes]
rs1789878	1.00[AMR][1000 genomes]
rs1789879	1.00[AMR][1000 genomes]
rs1789880	0.93[AMR][1000 genomes]
rs1789883	1.00[AMR][1000 genomes]
rs1789897	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1984360	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1984361	0.91[EUR][1000 genomes]
rs1984365	0.91[EUR][1000 genomes]
rs2032349	1.00[CHD][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2156734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213030	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213031	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2213034	1.00[EUR][1000 genomes]
rs2213037	0.83[AMR][1000 genomes]
rs2602886	0.84[EUR][1000 genomes]
rs2866039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2903167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3018045	0.91[EUR][1000 genomes]
rs4141887	1.00[CHD][hapmap]
rs4407513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4502688	0.91[EUR][1000 genomes]
rs4613578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699715	1.00[EUR][1000 genomes]
rs4699719	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699723	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532797	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6532798	1.00[CHD][hapmap]
rs6532800	1.00[CHD][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532801	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532807	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6824171	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6828364	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6836440	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6837685	1.00[CHD][hapmap]
rs6848576	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6855482	1.00[CHD][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7678936	1.00[CHD][hapmap]
rs7691700	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9307234	1.00[CHD][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
4	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	nsv879657	chr4:100082154-100139366	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100108400-100141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:100127000-100139000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:100127000-100139400	Weak transcription	Ovary	ovary
4	chr4:100127000-100140200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:100127000-100142600	Weak transcription	Small Intestine	intestine
6	chr4:100127400-100139000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:100127600-100138800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:100129000-100143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:100129400-100133800	Genic enhancers	Liver	Liver
10	chr4:100130200-100134600	Weak transcription	Pancreas	Pancrea
11	chr4:100130600-100132200	Enhancers	HSMMtube	muscle
12	chr4:100130800-100132000	Strong transcription	HepG2	liver
13	chr4:100131000-100132800	Weak transcription	Fetal Lung	lung
14	chr4:100131400-100132600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:100131400-100134800	Weak transcription	Aorta	Aorta
16	chr4:100131400-100143000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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