Variant report

Variant	rs12226602
Chromosome Location	chr11:65613348-65613349
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	chr11:65606415..65609404-chr11:65609747..65613615,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11227305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11227319	0.98[ASN][1000 genomes]
rs11227320	0.98[ASN][1000 genomes]
rs11227325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11227326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11227330	1.00[ASW][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11227331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11227334	0.88[ASN][1000 genomes]
rs11227335	0.88[ASN][1000 genomes]
rs12223734	0.95[ASN][1000 genomes]
rs1892901	0.83[CHB][hapmap]
rs2231892	1.00[YRI][hapmap]
rs7113661	1.00[AMR][1000 genomes]
rs7948137	1.00[AMR][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	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65602200-65618800	Weak transcription	Colonic Mucosa	Colon
2	chr11:65602200-65619000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:65602200-65623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:65602400-65618200	Weak transcription	Primary B cells from cord blood	blood
5	chr11:65602400-65618400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:65602600-65618600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:65602800-65618800	Weak transcription	Brain Anterior Caudate	brain
8	chr11:65603200-65617400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:65603200-65618000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:65603400-65618800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:65604400-65621200	Weak transcription	HSMMtube	muscle
12	chr11:65608200-65618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:65609800-65618000	Weak transcription	A549	lung
14	chr11:65610000-65614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:65610000-65616600	Weak transcription	Stomach Mucosa	stomach
16	chr11:65611600-65618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:65611800-65618200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:65611800-65618800	Weak transcription	Liver	Liver
19	chr11:65612000-65618200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:65612400-65616800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:65612400-65616800	Weak transcription	Fetal Intestine Small	intestine
22	chr11:65612400-65617000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:65612600-65615400	Weak transcription	HepG2	liver
24	chr11:65612600-65616600	Weak transcription	Fetal Intestine Large	intestine
25	chr11:65613200-65618200	Weak transcription	Placenta	Placenta

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