Variant report

Variant	rs2732549
Chromosome Location	chr11:35088399-35088400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35087035..35089860-chr11:35091064..35093898,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APIP-1	chr11:35088226-35088723	NONHSAT018769

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1116470	0.94[EUR][1000 genomes]
rs1116471	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1425805	0.91[EUR][1000 genomes]
rs1834459	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1834460	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1895821	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2098878	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2553772	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2553773	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2553777	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2553783	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2553826	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2553827	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2732540	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2732544	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2732546	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2732547	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2732550	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732552	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2785152	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2785193	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2785194	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2785197	0.94[EUR][1000 genomes]
rs2785198	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785201	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2785202	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs353590	0.82[JPT][hapmap]
rs353604	0.82[JPT][hapmap]
rs387619	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs429503	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627096	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs675970	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693163	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs879487	0.91[AMR][1000 genomes];0.92[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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35081800-35088400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:35084600-35090600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:35084800-35088400	Weak transcription	Esophagus	oesophagus
4	chr11:35085000-35089000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:35085200-35089000	Enhancers	NHLF	lung
6	chr11:35085800-35088400	Weak transcription	K562	blood
7	chr11:35085800-35090800	Weak transcription	Pancreas	Pancrea
8	chr11:35086200-35088400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:35086200-35088600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:35086200-35089200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:35086200-35091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:35086400-35088600	Enhancers	NHDF-Ad	bronchial
13	chr11:35086400-35089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:35086600-35088400	Weak transcription	NH-A	brain
15	chr11:35086600-35091000	Weak transcription	Aorta	Aorta
16	chr11:35086800-35088600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:35087000-35088600	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:35087200-35088400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr11:35087200-35089000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:35087200-35089200	Enhancers	Primary T cells from cord blood	blood
21	chr11:35087200-35090200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:35087400-35089200	Enhancers	Fetal Thymus	thymus
23	chr11:35087400-35089600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:35087400-35090000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:35087400-35090000	Enhancers	Dnd41	blood
26	chr11:35087400-35090200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:35087400-35090600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:35087400-35091200	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:35087400-35091200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:35087400-35091200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:35087600-35088400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:35087600-35088400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:35087600-35089200	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:35087600-35090600	Weak transcription	Spleen	Spleen
35	chr11:35087800-35088800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:35087800-35089200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:35087800-35089200	Flanking Active TSS	GM12878-XiMat	blood
38	chr11:35087800-35089600	Enhancers	Thymus	Thymus
39	chr11:35088000-35088600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:35088000-35088600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:35088000-35089200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:35088000-35089200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:35088000-35089400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:35088200-35088600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:35088200-35088600	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:35088200-35088600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:35088200-35089200	Enhancers	Small Intestine	intestine
48	chr11:35088200-35089400	Enhancers	Primary B cells from cord blood	blood

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