Variant report

Variant	rs73412674
Chromosome Location	chr9:17579842-17579843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12003553	0.83[AMR][1000 genomes]
rs35698021	1.00[EUR][1000 genomes]
rs61105731	1.00[AMR][1000 genomes]
rs7039273	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7045930	1.00[AMR][1000 genomes]
rs7046237	1.00[AMR][1000 genomes]
rs7046555	1.00[AMR][1000 genomes]
rs7046994	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412652	0.90[EUR][1000 genomes]
rs73412656	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73418614	1.00[EUR][1000 genomes]
rs73418657	0.83[AMR][1000 genomes]
rs73424233	1.00[AMR][1000 genomes]
rs73428265	0.83[AMR][1000 genomes]
rs73641973	1.00[AMR][1000 genomes]
rs7847140	1.00[AMR][1000 genomes]
rs7850070	1.00[EUR][1000 genomes]
rs7857326	1.00[AMR][1000 genomes]
rs7857717	0.83[AMR][1000 genomes]
rs7858051	0.83[AMR][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	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv517380	chr9:17564267-17633232	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466274	chr9:17564267-17633232	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv613701	chr9:17564267-17633232	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv892672	chr9:17564267-17634566	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1025072	chr9:17577141-17632543	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3414236	chr9:17577977-17580825	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17577800-17580000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:17578200-17580000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:17578200-17580600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:17578400-17580000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr9:17578400-17580000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr9:17578400-17580000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:17578400-17580000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:17578400-17580000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr9:17578400-17580200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr9:17578400-17580200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr9:17578400-17580400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr9:17578400-17580800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:17578400-17580800	Active TSS	Fetal Brain Female	brain
14	chr9:17578600-17580000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:17578600-17580000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:17578600-17580000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:17578600-17580000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:17578600-17580000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:17578600-17580000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:17578600-17580000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr9:17578800-17580000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:17578800-17580000	Active TSS	Brain Substantia Nigra	brain
23	chr9:17578800-17580000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr9:17578800-17580200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:17578800-17580200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
26	chr9:17578800-17580400	Active TSS	Brain Angular Gyrus	brain
27	chr9:17578800-17580600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr9:17579000-17580000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:17579000-17580200	Active TSS	Hela-S3	cervix
30	chr9:17579200-17580000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr9:17579200-17580600	Active TSS	Brain Anterior Caudate	brain
32	chr9:17579200-17581400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr9:17579400-17580000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr9:17579600-17580000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:17579600-17580000	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr9:17579600-17580000	Active TSS	Right Ventricle	heart
37	chr9:17579600-17580000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr9:17579800-17580000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:17579800-17580000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:17579800-17580000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr9:17579800-17580000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:17579800-17580000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr9:17579800-17580000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:17579800-17580000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:17579800-17580000	Enhancers	Pancreas	Pancrea
46	chr9:17579800-17580200	Active TSS	Fetal Brain Male	brain

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