Variant report

Variant	rs12226055
Chromosome Location	chr11:64432193-64432194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64430526..64434580-chr11:64434657..64436999,3	K562	blood:
2	chr11:64409724..64411786-chr11:64431025..64432976,2	K562	blood:
3	chr11:64430526..64433407-chr11:64434915..64436999,2	K562	blood:
4	chr11:64432055..64434401-chr11:64438499..64440363,2	MCF-7	breast:
5	chr11:64426242..64429718-chr11:64430472..64434531,3	K562	blood:
6	chr11:64426537..64429718-chr11:64431024..64434752,9	K562	blood:

Variant related genes	Relation type
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231824	0.82[ASN][1000 genomes]
rs11231840	0.89[ASN][1000 genomes]
rs11231841	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231842	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231849	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820322	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222043	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17146104	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741399	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802947	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850944	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55659641	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56317934	0.92[ASN][1000 genomes]
rs57387921	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
13	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr11:64421000-64434800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
3	chr11:64423000-64432800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:64424400-64435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:64426000-64433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64427800-64432800	Weak transcription	Fetal Thymus	thymus
7	chr11:64427800-64432800	Weak transcription	Hela-S3	cervix
8	chr11:64428000-64432800	Weak transcription	Spleen	Spleen
9	chr11:64428200-64432800	Weak transcription	K562	blood
10	chr11:64428800-64440400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:64428800-64442600	Weak transcription	Right Atrium	heart
12	chr11:64428800-64442800	Weak transcription	Aorta	Aorta
13	chr11:64429000-64434400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:64429200-64434600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:64429400-64432800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:64429400-64432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:64429400-64432800	Weak transcription	Adipose Nuclei	Adipose
18	chr11:64429400-64432800	Weak transcription	Placenta	Placenta
19	chr11:64429400-64432800	Weak transcription	NHDF-Ad	bronchial
20	chr11:64429400-64433000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:64429400-64434400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:64429400-64434400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:64429400-64434400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:64429400-64434400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:64429400-64439600	Weak transcription	Brain Substantia Nigra	brain
26	chr11:64429400-64442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64429600-64432800	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:64430400-64433000	Weak transcription	Brain Germinal Matrix	brain
29	chr11:64431600-64432800	Weak transcription	Fetal Brain Female	brain
30	chr11:64431600-64432800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:64431600-64433600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:64431600-64442000	Weak transcription	Brain Anterior Caudate	brain
33	chr11:64432000-64433600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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