Variant report

Variant	rs12279348
Chromosome Location	chr11:35072257-35072258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11032985	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11032988	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11032991	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12270882	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12286491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12290356	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12295548	0.82[EUR][1000 genomes]
rs12419825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12421005	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2114074	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162159	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162160	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2553774	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2553779	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2553780	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2785149	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2785150	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4480518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4755385	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4755386	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57319699	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7101767	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117388	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737502	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35061800-35072800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:35062800-35073600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:35064000-35077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:35065200-35073200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:35065400-35072600	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:35065600-35073200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:35069400-35074000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr11:35069600-35074000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:35070400-35072600	Enhancers	Colon Smooth Muscle	Colon
10	chr11:35070600-35073000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:35070600-35078600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:35070600-35087000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:35070800-35079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:35071000-35073200	Enhancers	Dnd41	blood
15	chr11:35071400-35073600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:35071400-35073600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:35071600-35072400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:35071600-35072800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:35071600-35072800	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:35071600-35072800	Enhancers	K562	blood
21	chr11:35071600-35073200	Enhancers	Thymus	Thymus
22	chr11:35071800-35072400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:35071800-35072400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:35071800-35072800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:35071800-35072800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:35071800-35072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:35071800-35072800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:35071800-35072800	Enhancers	Fetal Muscle Leg	muscle
29	chr11:35071800-35073200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:35072000-35072400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr11:35072000-35072400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:35072000-35072400	Flanking Active TSS	Fetal Thymus	thymus
33	chr11:35072000-35072400	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:35072000-35072600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:35072000-35072800	Enhancers	HSMMtube	muscle
36	chr11:35072200-35072400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:35072200-35072400	Flanking Active TSS	Fetal Stomach	stomach
38	chr11:35072200-35072400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:35072200-35072400	Enhancers	Osteobl	bone
40	chr11:35072200-35072600	Enhancers	Hela-S3	cervix
41	chr11:35072200-35073200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:35072200-35073400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:35072200-35074000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links