Variant report

Variant	rs11179635
Chromosome Location	chr12:41449740-41449741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11179577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11179636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297647	1.00[AMR][1000 genomes]
rs12298802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299083	1.00[AMR][1000 genomes]
rs12302128	1.00[AMR][1000 genomes]
rs12302473	1.00[AMR][1000 genomes]
rs12306182	1.00[AMR][1000 genomes]
rs12307341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316685	0.84[AFR][1000 genomes]
rs12321115	1.00[AMR][1000 genomes]
rs34346038	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41408200-41449800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:41429000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41448200-41456600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:41448600-41449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:41449200-41449800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:41449200-41449800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:41449200-41450200	Enhancers	HSMM	muscle
8	chr12:41449200-41450400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:41449200-41450600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:41449600-41450000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:41449600-41450000	Enhancers	Fetal Muscle Leg	muscle
12	chr12:41449600-41450000	Enhancers	Fetal Stomach	stomach
13	chr12:41449600-41450200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:41449600-41450400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:41449600-41450400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:41449600-41450400	Enhancers	A549	lung
17	chr12:41449600-41450600	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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