Variant report

Variant	rs418816
Chromosome Location	chr9:86461095-86461096
allele	C/G
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:10)

rs_ID	r²[population]
rs11140265	0.82[ASN][1000 genomes]
rs12682981	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs295268	0.86[EUR][1000 genomes]
rs295273	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs295289	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3119921	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs419250	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047907	0.82[EUR][1000 genomes]
rs9410887	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9410888	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv982312	chr9:86424154-86490046	Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv6590	chr9:86435603-86480442	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv8540	chr9:86458587-86470369	Strong transcription ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86447800-86461200	Weak transcription	Fetal Brain Female	brain
2	chr9:86447800-86470800	Weak transcription	Brain Germinal Matrix	brain
3	chr9:86452000-86467800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:86452200-86464000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:86453400-86461200	Weak transcription	Fetal Intestine Large	intestine
6	chr9:86454400-86461200	Weak transcription	Primary T cells from cord blood	blood
7	chr9:86455400-86461200	Weak transcription	Dnd41	blood
8	chr9:86455400-86461400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:86456000-86463600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr9:86456200-86466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:86456600-86472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:86456800-86463200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:86457000-86464000	Weak transcription	Left Ventricle	heart
14	chr9:86457400-86461200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:86457400-86461200	Weak transcription	Brain Anterior Caudate	brain
16	chr9:86457400-86461200	Weak transcription	Fetal Lung	lung
17	chr9:86457400-86461200	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:86457400-86461200	Weak transcription	Lung	lung
19	chr9:86457400-86461400	Weak transcription	Fetal Thymus	thymus
20	chr9:86457400-86461600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:86457400-86461800	Weak transcription	Fetal Brain Male	brain
22	chr9:86457400-86464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:86457400-86468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:86457400-86469000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:86457600-86464000	Weak transcription	Pancreas	Pancrea
26	chr9:86458000-86463600	Weak transcription	Esophagus	oesophagus
27	chr9:86458600-86462800	Strong transcription	Fetal Stomach	stomach
28	chr9:86459000-86461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:86459400-86461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:86459400-86461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:86459400-86461200	Weak transcription	Liver	Liver
32	chr9:86459400-86461200	Weak transcription	Gastric	stomach
33	chr9:86459600-86461200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:86459600-86461200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:86459600-86461200	Weak transcription	Brain Angular Gyrus	brain
36	chr9:86459600-86461200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:86459600-86461200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:86459600-86461200	Weak transcription	Fetal Kidney	kidney
39	chr9:86459600-86461200	Weak transcription	Placenta	Placenta
40	chr9:86459600-86461200	Weak transcription	Ovary	ovary
41	chr9:86459600-86461200	Weak transcription	Spleen	Spleen
42	chr9:86459600-86464000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:86459800-86461400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr9:86459800-86464200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr9:86459800-86466400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr9:86460000-86474000	Weak transcription	Adipose Nuclei	Adipose
47	chr9:86460200-86463800	Weak transcription	Right Ventricle	heart
48	chr9:86460400-86462800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:86460400-86465400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:86460600-86461200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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