Variant report

Variant	rs930245
Chromosome Location	chr9:8873179-8873180
allele	C/T
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:13)

rs_ID	r²[population]
rs10759008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10759010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759012	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10977331	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7028363	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7028784	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs930246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	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	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
3	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
4	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8869000-8873800	Enhancers	Brain Cingulate Gyrus	brain
2	chr9:8869400-8876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:8869800-8874000	Enhancers	Brain Angular Gyrus	brain
4	chr9:8870000-8874400	Weak transcription	Left Ventricle	heart
5	chr9:8870800-8874000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:8871000-8876000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:8871000-8879800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:8871200-8874400	Weak transcription	Right Ventricle	heart
9	chr9:8871200-8875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:8871400-8873400	Enhancers	Brain Substantia Nigra	brain
11	chr9:8871400-8883000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:8871800-8873200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:8872000-8873200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:8872000-8873200	Enhancers	Fetal Muscle Leg	muscle
15	chr9:8872000-8873400	Enhancers	Fetal Heart	heart
16	chr9:8872200-8873800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:8872400-8873200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:8872400-8873200	Enhancers	Brain Hippocampus Middle	brain
19	chr9:8872400-8873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8872400-8876200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:8872800-8873200	Enhancers	Right Atrium	heart
22	chr9:8873000-8873200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:8873000-8873200	Enhancers	Aorta	Aorta
24	chr9:8873000-8873200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:8873000-8873400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr9:8873000-8877800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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