Variant report

Variant	rs12222043
Chromosome Location	chr11:64441869-64441870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64402707-64415880..11:64437729-64442269	Hela-S3	cervix:
2	chr11:64440214..64441747-chr11:64441770..64443927,2	K562	blood:

Variant related genes	Relation type
ENSG00000237410	Chromatin interaction
ENSG00000110076	Chromatin interaction

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

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

rs_ID	r²[population]
rs11231840	0.83[ASN][1000 genomes]
rs11231841	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11231842	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11231849	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11820322	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12226055	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17146104	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741399	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802947	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3850944	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56317934	0.86[ASN][1000 genomes]
rs57387921	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
2	chr11:64428800-64442600	Weak transcription	Right Atrium	heart
3	chr11:64428800-64442800	Weak transcription	Aorta	Aorta
4	chr11:64429400-64442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64431600-64442000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:64433600-64443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:64436400-64442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:64436600-64442000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:64436600-64442400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:64437600-64442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:64438800-64442200	Weak transcription	Brain Germinal Matrix	brain
12	chr11:64438800-64443200	Weak transcription	Fetal Brain Female	brain
13	chr11:64439600-64442400	Weak transcription	Left Ventricle	heart
14	chr11:64439800-64443000	Weak transcription	Spleen	Spleen
15	chr11:64439800-64443800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:64440000-64442000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:64440000-64442400	Enhancers	GM12878-XiMat	blood
18	chr11:64440200-64442400	Weak transcription	HSMMtube	muscle
19	chr11:64440600-64442600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:64440600-64443000	Weak transcription	Primary B cells from cord blood	blood
21	chr11:64440800-64442600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:64441200-64442200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:64441200-64442400	Weak transcription	Brain Angular Gyrus	brain
24	chr11:64441200-64442400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:64441400-64442400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:64441400-64443400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:64441600-64442800	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr11:64441800-64442200	Weak transcription	Psoas Muscle	Psoas
29	chr11:64441800-64442600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:64441800-64444000	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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