Variant report

Variant	rs12554902
Chromosome Location	chr9:18611614-18611615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12684130	0.86[JPT][hapmap]
rs1412673	0.91[JPT][hapmap]
rs16936905	0.91[JPT][hapmap]
rs1889008	0.86[EUR][1000 genomes]
rs1889009	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2000117	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4977387	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv428536	chr9:18512807-18667760	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv831523	chr9:18592398-18753451	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv892694	chr9:18599029-18767830	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr9:18606000-18611800	Weak transcription	Fetal Brain Male	brain
2	chr9:18606200-18624400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:18606600-18632200	Weak transcription	NHLF	lung
4	chr9:18607000-18614000	Weak transcription	Right Atrium	heart
5	chr9:18607200-18611800	Weak transcription	NHDF-Ad	bronchial
6	chr9:18607200-18622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:18607400-18622200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:18608800-18622000	Weak transcription	Osteobl	bone
9	chr9:18608800-18622400	Weak transcription	NH-A	brain
10	chr9:18610000-18612200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:18610000-18612200	Enhancers	Brain Substantia Nigra	brain
12	chr9:18610400-18612000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:18610400-18612200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:18610400-18612200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:18610400-18612200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:18610400-18612200	Genic enhancers	HSMM	muscle
17	chr9:18610600-18612000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:18610600-18612000	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:18610600-18612200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:18610600-18612200	Enhancers	Stomach Smooth Muscle	stomach
21	chr9:18610600-18612600	Enhancers	Fetal Stomach	stomach
22	chr9:18611000-18612200	Enhancers	Fetal Muscle Leg	muscle
23	chr9:18611000-18612400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:18611000-18612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:18611000-18612600	Enhancers	Adipose Nuclei	Adipose
26	chr9:18611200-18611800	Enhancers	Fetal Brain Female	brain
27	chr9:18611200-18612000	Enhancers	Colon Smooth Muscle	Colon
28	chr9:18611200-18612000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr9:18611200-18612200	Enhancers	Brain Germinal Matrix	brain
30	chr9:18611400-18611800	Weak transcription	Aorta	Aorta
31	chr9:18611400-18612000	Weak transcription	Fetal Lung	lung
32	chr9:18611400-18613000	Enhancers	HSMMtube	muscle
33	chr9:18611400-18622200	Weak transcription	Fetal Heart	heart

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