Variant report

Variant	rs12555311
Chromosome Location	chr9:79370393-79370394
allele	A/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:13)

rs_ID	r²[population]
rs10217198	1.00[CEU][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337262	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684201	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343401	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343407	0.85[ASN][1000 genomes]
rs17787305	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2039879	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61401332	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7038114	0.85[ASN][1000 genomes]
rs73460219	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73460240	0.92[ASN][1000 genomes]
rs73460246	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9314856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758190	chr9:79365865-79673907	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759697	chr9:79365865-79673907	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79358400-79370800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:79361200-79396600	Weak transcription	Aorta	Aorta
3	chr9:79362200-79370400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:79364400-79372000	Weak transcription	Brain Hippocampus Middle	brain
5	chr9:79364600-79371200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:79364600-79371200	Weak transcription	Brain Substantia Nigra	brain
7	chr9:79364600-79371400	Weak transcription	Brain Angular Gyrus	brain
8	chr9:79364600-79387000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:79364800-79370600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:79364800-79373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:79364800-79374800	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:79366000-79370400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:79366000-79371200	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:79368800-79370400	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:79369000-79370400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:79370000-79370600	Enhancers	HSMMtube	muscle
17	chr9:79370000-79371400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:79370000-79371600	Enhancers	HSMM	muscle
19	chr9:79370200-79370600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:79370200-79370800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:79370200-79371000	Active TSS	GM12878-XiMat	blood
22	chr9:79370200-79372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:79370200-79375800	Enhancers	Primary B cells from cord blood	blood

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