Variant report

Variant	rs12280403
Chromosome Location	chr11:120370055-120370056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10437691	1.00[AMR][1000 genomes]
rs10466597	1.00[AMR][1000 genomes]
rs11217780	1.00[AMR][1000 genomes]
rs11217784	1.00[AMR][1000 genomes]
rs11217894	1.00[AMR][1000 genomes]
rs12272851	1.00[AMR][1000 genomes]
rs12273736	1.00[AMR][1000 genomes]
rs12278707	1.00[AMR][1000 genomes]
rs12279381	1.00[AMR][1000 genomes]
rs12283229	1.00[AMR][1000 genomes]
rs12285146	1.00[AMR][1000 genomes]
rs12286309	1.00[AMR][1000 genomes]
rs12288495	1.00[AMR][1000 genomes]
rs12288854	1.00[AMR][1000 genomes]
rs12288900	1.00[AMR][1000 genomes]
rs12290756	1.00[AMR][1000 genomes]
rs12291269	1.00[AMR][1000 genomes]
rs12294024	1.00[AMR][1000 genomes]
rs12294303	1.00[AMR][1000 genomes]
rs28739499	1.00[AMR][1000 genomes]
rs7943655	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120356200-120370800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:120356600-120370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:120357200-120374000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:120357800-120371400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:120358000-120370600	Weak transcription	Osteobl	bone
7	chr11:120358600-120370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:120358600-120370800	Weak transcription	Left Ventricle	heart
9	chr11:120358600-120374200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:120358800-120370400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:120358800-120370600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:120358800-120371800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:120361600-120370600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:120361800-120370600	Weak transcription	HSMMtube	muscle
15	chr11:120361800-120372200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:120362000-120370600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:120362000-120370600	Weak transcription	HSMM	muscle
18	chr11:120362200-120372400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:120362400-120370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:120362400-120372200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:120365800-120371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:120366200-120370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:120366200-120370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:120367200-120373800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:120367400-120371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:120367600-120370800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:120367600-120370800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:120367600-120371200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:120367600-120371400	Weak transcription	Fetal Kidney	kidney
30	chr11:120367800-120371200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:120369000-120371000	Weak transcription	HUVEC	blood vessel
32	chr11:120369400-120370600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:120369800-120370600	Enhancers	GM12878-XiMat	blood

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