Variant report

Variant	rs12294471
Chromosome Location	chr11:120676892-120676893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11218009	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11218010	1.00[ASN][1000 genomes]
rs11218012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218015	1.00[ASN][1000 genomes]
rs11600068	1.00[ASN][1000 genomes]
rs11821379	1.00[ASN][1000 genomes]
rs11824263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270392	1.00[ASN][1000 genomes]
rs12271786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278106	1.00[ASN][1000 genomes]
rs12278827	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279371	1.00[ASN][1000 genomes]
rs12282146	1.00[ASN][1000 genomes]
rs12285831	1.00[AMR][1000 genomes]
rs12286679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289237	1.00[ASN][1000 genomes]
rs12289238	1.00[ASN][1000 genomes]
rs12289919	1.00[ASN][1000 genomes]
rs12290923	1.00[ASN][1000 genomes]
rs12292138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124507	1.00[ASN][1000 genomes]
rs4278523	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57090447	1.00[ASN][1000 genomes]
rs57802696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58190380	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60967271	1.00[ASN][1000 genomes]
rs7103005	1.00[ASN][1000 genomes]
rs7103215	1.00[ASN][1000 genomes]
rs7103391	1.00[ASN][1000 genomes]
rs7103410	1.00[ASN][1000 genomes]
rs7104632	1.00[ASN][1000 genomes]
rs7104812	1.00[ASN][1000 genomes]
rs7105205	1.00[ASN][1000 genomes]
rs7106024	1.00[ASN][1000 genomes]
rs7113703	1.00[ASN][1000 genomes]
rs7119695	1.00[ASN][1000 genomes]
rs7123614	1.00[ASN][1000 genomes]
rs7125796	1.00[ASN][1000 genomes]
rs7129234	1.00[ASN][1000 genomes]
rs7130412	1.00[ASN][1000 genomes]
rs73578576	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73578586	1.00[ASN][1000 genomes]
rs73578591	1.00[ASN][1000 genomes]
rs73578615	1.00[ASN][1000 genomes]
rs7926171	1.00[ASN][1000 genomes]
rs7938287	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr11:120671400-120687400	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120673400-120677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120673400-120677600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:120673600-120678000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120673600-120687800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:120673600-120687800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:120674000-120696000	Weak transcription	Fetal Lung	lung
8	chr11:120675200-120678600	Weak transcription	Liver	Liver
9	chr11:120675400-120677600	Weak transcription	HepG2	liver
10	chr11:120676000-120680200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:120676400-120678400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:120676400-120680200	Enhancers	Placenta	Placenta
13	chr11:120676600-120677000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120676600-120677000	Enhancers	HSMM	muscle
15	chr11:120676600-120677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:120676600-120677200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:120676600-120677200	Enhancers	GM12878-XiMat	blood
18	chr11:120676600-120677400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:120676600-120678400	Enhancers	HSMMtube	muscle
20	chr11:120676600-120680000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:120676800-120677000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:120676800-120677000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:120676800-120677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:120676800-120677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:120676800-120678000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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