Variant report

Variant	rs1991863
Chromosome Location	chr9:8863644-8863645
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10759007	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10815979	0.80[ASN][1000 genomes]
rs10977326	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10977327	0.84[ASN][1000 genomes]
rs12236086	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12685753	0.84[ASN][1000 genomes]
rs1821333	0.81[ASN][1000 genomes]
rs4147225	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv892236	chr9:8745520-8870553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8858800-8871400	Enhancers	Fetal Heart	heart
2	chr9:8859000-8864200	Weak transcription	Aorta	Aorta
3	chr9:8859200-8863800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:8859200-8864000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:8859400-8864000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:8859400-8864000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8859400-8864000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:8859400-8870800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:8859600-8866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:8860200-8864400	Weak transcription	Ovary	ovary
11	chr9:8860200-8864600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:8860200-8867400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:8860400-8863800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:8860400-8864200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:8860600-8863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:8860800-8867200	Weak transcription	Brain Germinal Matrix	brain
17	chr9:8861000-8864200	Weak transcription	Brain Anterior Caudate	brain
18	chr9:8861200-8864200	Weak transcription	Brain Angular Gyrus	brain
19	chr9:8861200-8867400	Weak transcription	Fetal Brain Female	brain
20	chr9:8863000-8868200	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:8863200-8864000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:8863200-8864000	Enhancers	NH-A	brain
23	chr9:8863200-8864400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:8863200-8864400	Enhancers	Brain Hippocampus Middle	brain
25	chr9:8863200-8865000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:8863400-8864200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:8863400-8864400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:8863400-8864400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:8863400-8864800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:8863400-8868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:8863400-8872000	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:8863600-8863800	Enhancers	NHEK	skin
33	chr9:8863600-8864000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:8863600-8864000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:8863600-8865000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:8863600-8865600	Weak transcription	Brain Substantia Nigra	brain

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