Variant report

Variant	rs12295548
Chromosome Location	chr11:35083019-35083020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11032985	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11032988	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11032991	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12270882	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12279348	0.82[EUR][1000 genomes]
rs12286491	0.82[EUR][1000 genomes]
rs12290356	0.82[EUR][1000 genomes]
rs12419825	0.82[EUR][1000 genomes]
rs12421005	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2114074	0.80[EUR][1000 genomes]
rs2162159	0.82[EUR][1000 genomes]
rs2162160	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2553774	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2553779	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2553780	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2785149	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2785150	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4480518	0.82[EUR][1000 genomes]
rs4755385	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4755386	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57319699	0.84[ASN][1000 genomes]
rs7101767	0.82[EUR][1000 genomes]
rs7117388	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737502	0.82[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35070600-35087000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:35077400-35084200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:35078400-35083400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:35079000-35083200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:35079000-35085200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:35079600-35084200	Weak transcription	Lung	lung
7	chr11:35079800-35084600	Weak transcription	K562	blood
8	chr11:35080800-35085000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:35080800-35087800	Weak transcription	GM12878-XiMat	blood
10	chr11:35081400-35085600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:35081400-35087400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:35081600-35084600	Weak transcription	Spleen	Spleen
13	chr11:35081600-35085200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:35081600-35086200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:35081600-35087400	Weak transcription	Fetal Thymus	thymus
16	chr11:35081600-35088200	Weak transcription	Primary B cells from cord blood	blood
17	chr11:35081800-35084000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:35081800-35084000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:35081800-35085000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:35081800-35085000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:35081800-35085600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:35081800-35087400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:35081800-35087400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:35081800-35088400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:35082000-35087800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:35082200-35083200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:35082200-35085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:35082200-35087200	Weak transcription	Primary T cells from cord blood	blood
29	chr11:35082200-35087200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:35082200-35087400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:35083000-35083400	Enhancers	Rectal Smooth Muscle	rectum
32	chr11:35083000-35084200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr11:35083000-35084600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:35083000-35085400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:35083000-35085400	Enhancers	NHDF-Ad	bronchial

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