Variant report

Variant	rs11944947
Chromosome Location	chr4:128976861-128976862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128974249..128979637-chr4:128979760..128983814,7	MCF-7	breast:
2	chr4:128976139..128978653-chr4:128980606..128983915,3	K562	blood:
3	chr4:128976139..128979526-chr4:128980143..128983915,6	K562	blood:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11942726	0.90[ASN][1000 genomes]
rs17012788	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17012836	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012841	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012856	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012870	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17012899	0.92[ASN][1000 genomes]
rs2007733	0.86[ASN][1000 genomes]
rs2015987	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276898	0.87[ASN][1000 genomes]
rs2276899	0.87[ASN][1000 genomes]
rs2276900	0.87[ASN][1000 genomes]
rs35763794	0.93[ASN][1000 genomes]
rs4426798	0.87[ASN][1000 genomes]
rs4431238	0.87[ASN][1000 genomes]
rs4470641	0.87[ASN][1000 genomes]
rs4535346	0.82[EUR][1000 genomes]
rs56699332	0.85[ASN][1000 genomes]
rs57257129	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57431280	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57487637	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57872423	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58225850	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58546713	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58569950	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59569890	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59815828	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59984114	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60505265	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60665827	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60979346	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61027047	0.85[ASN][1000 genomes]
rs6817374	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6840241	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72616969	0.82[EUR][1000 genomes]
rs72616971	0.86[ASN][1000 genomes]
rs72616972	0.87[ASN][1000 genomes]
rs72616973	0.87[ASN][1000 genomes]
rs72616974	0.87[ASN][1000 genomes]
rs72616975	0.87[ASN][1000 genomes]
rs72616976	0.88[ASN][1000 genomes]
rs72616977	0.90[ASN][1000 genomes]
rs72616978	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618806	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618807	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618808	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618809	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618810	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618811	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618812	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618813	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72618814	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618815	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618816	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72618817	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72618818	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618819	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618820	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618821	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618822	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618823	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618824	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618825	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72618826	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618827	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618828	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618829	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618830	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618831	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618832	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618833	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618834	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618835	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh 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
10	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv1800378	chr4:128954647-128986874	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	esv1801389	chr4:128954647-128986874	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	esv1802601	chr4:128954647-128986874	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	esv3353674	chr4:128958396-128983454	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	esv3430549	chr4:128958396-128987680	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	esv3385008	chr4:128959396-128991050	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	esv1795256	chr4:128960569-128983211	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	esv1797884	chr4:128960569-128983211	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	esv1800439	chr4:128972357-128986874	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
2	chr4:128951400-128981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:128975800-128977000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:128975800-128977000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:128976000-128979400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:128976200-128981400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:128976800-128977000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:128976800-128977000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:128976800-128977000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:128976800-128977000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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