Variant report

Variant	rs72691086
Chromosome Location	chr9:8427368-8427369
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:15)

rs_ID	r²[population]
rs10977081	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10977086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12348387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12349376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359115	0.80[AFR][1000 genomes]
rs4742501	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67575608	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67803728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7030220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72691074	0.84[EUR][1000 genomes]
rs72691084	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7868338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9792615	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9792633	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:8402800-8438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:8405800-8438000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8408200-8429200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:8410600-8436800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8415400-8435800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:8418200-8476000	Weak transcription	Fetal Brain Male	brain
9	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:8419800-8447600	Weak transcription	Fetal Brain Female	brain
11	chr9:8420200-8436800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:8420600-8466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
14	chr9:8421200-8432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:8421400-8456400	Weak transcription	Ovary	ovary
16	chr9:8422000-8464800	Weak transcription	Brain Germinal Matrix	brain
17	chr9:8423200-8446800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:8424200-8485000	Weak transcription	Fetal Kidney	kidney
19	chr9:8424600-8437800	Weak transcription	Fetal Heart	heart
20	chr9:8425000-8429200	Weak transcription	Fetal Lung	lung
21	chr9:8425600-8447600	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:8426200-8429600	Weak transcription	Brain Substantia Nigra	brain
23	chr9:8427200-8430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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