Variant report

Variant	rs58997119
Chromosome Location	chr9:8717515-8717516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10977264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12004150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12005542	1.00[ASN][1000 genomes]
rs1434261	0.94[AMR][1000 genomes]
rs55840753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56189765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56227950	1.00[EUR][1000 genomes]
rs57677998	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58302765	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61070023	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61188633	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66523670	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67646591	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67807514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042240	1.00[ASN][1000 genomes]
rs72700400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73427580	1.00[ASN][1000 genomes]
rs73429608	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv6474	chr9:8706602-8751414	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr9:8699600-8717800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8700800-8718000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:8704400-8731800	Weak transcription	Fetal Lung	lung
4	chr9:8706800-8718000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:8710600-8733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:8712000-8718200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:8712200-8717800	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:8715000-8718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:8715400-8723000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:8715600-8719000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:8715600-8720200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:8716000-8718000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:8716200-8717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:8716200-8720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:8716200-8732600	Weak transcription	Fetal Brain Female	brain
16	chr9:8716400-8718000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:8716400-8719400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:8716600-8717600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:8717000-8717800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:8717000-8718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:8717000-8721000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:8717200-8717600	Weak transcription	Brain Angular Gyrus	brain
23	chr9:8717200-8718600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:8717200-8719200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:8717200-8721000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:8717400-8718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:8717400-8718600	Enhancers	NH-A	brain
28	chr9:8717400-8719000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:8717400-8719000	Enhancers	Brain Substantia Nigra	brain
30	chr9:8717400-8719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:8717400-8719600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:8717400-8719800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:8717400-8720200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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