Variant report

Variant	rs2296094
Chromosome Location	chr9:8420673-8420674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10114603	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815854	0.88[CHB][hapmap]
rs10815861	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815862	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815864	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977070	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977071	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359115	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1500335	0.84[JPT][hapmap]
rs1500336	0.84[JPT][hapmap]
rs2133790	0.84[JPT][hapmap]
rs2133791	0.83[JPT][hapmap]
rs2296095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146133	0.84[JPT][hapmap]
rs72691079	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7847051	0.84[JPT][hapmap]
rs7867053	0.93[ASN][1000 genomes]
rs9792404	0.91[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv613287	chr9:8408453-8422302	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	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	chr9:8394000-8424400	Weak transcription	Fetal Lung	lung
3	chr9:8402400-8421000	Weak transcription	Brain Hippocampus Middle	brain
4	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:8402800-8438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:8405800-8438000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:8408200-8429200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:8410600-8436800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:8415400-8435800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:8418200-8476000	Weak transcription	Fetal Brain Male	brain
11	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:8419600-8421200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:8419800-8421200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:8419800-8421200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:8419800-8447600	Weak transcription	Fetal Brain Female	brain
16	chr9:8420000-8422000	Enhancers	Brain Germinal Matrix	brain
17	chr9:8420200-8421400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:8420200-8425400	Weak transcription	Brain Substantia Nigra	brain
19	chr9:8420200-8436800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8420400-8421200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:8420400-8421200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:8420600-8466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:8420600-8557600	Weak transcription	Aorta	Aorta

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