Variant report

Variant	rs34599557
Chromosome Location	chr9:8494549-8494550
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10115201	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10115554	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10116020	0.93[EUR][1000 genomes]
rs10124277	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10977154	0.82[ASN][1000 genomes]
rs1323592	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13283150	0.88[ASN][1000 genomes]
rs13286908	0.89[EUR][1000 genomes]
rs13290896	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13292865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13294270	0.85[AMR][1000 genomes]
rs13296910	0.82[EUR][1000 genomes]
rs13298803	0.82[EUR][1000 genomes]
rs16928002	0.84[ASN][1000 genomes]
rs16928048	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17650289	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2296102	0.98[ASN][1000 genomes]
rs34190427	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35441574	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35777094	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35929428	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4338166	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4409447	0.82[EUR][1000 genomes]
rs4495488	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4549838	0.82[EUR][1000 genomes]
rs62534023	0.85[AMR][1000 genomes]
rs62534025	0.87[ASN][1000 genomes]
rs62534026	0.87[ASN][1000 genomes]
rs62534027	0.87[ASN][1000 genomes]
rs62534039	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62534040	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7863060	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	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	nsv892226	chr9:8435525-8522326	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv892229	chr9:8485201-8520366	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
2	chr9:8442200-8522200	Weak transcription	Liver	Liver
3	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:8478200-8504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:8479200-8504000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:8481200-8500800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:8483800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:8486000-8495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:8486000-8508400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:8486000-8519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:8486000-8522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:8486200-8501800	Weak transcription	Fetal Heart	heart
13	chr9:8486200-8504600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:8486200-8509000	Weak transcription	Brain Anterior Caudate	brain
15	chr9:8486200-8517200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:8486200-8522800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:8486200-8523200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:8486200-8531600	Weak transcription	Fetal Kidney	kidney
19	chr9:8486600-8507200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:8487000-8499400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:8487000-8521200	Weak transcription	Brain Germinal Matrix	brain
22	chr9:8487000-8521200	Weak transcription	Dnd41	blood
23	chr9:8489600-8495000	Strong transcription	Fetal Lung	lung
24	chr9:8492400-8503400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:8492400-8504200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:8492400-8528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:8492600-8503400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:8492800-8495000	Enhancers	Brain Substantia Nigra	brain
29	chr9:8493000-8494800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr9:8493000-8518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:8493000-8521200	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:8493200-8498400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:8493200-8499600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:8493200-8500800	Weak transcription	Pancreas	Pancrea
35	chr9:8493200-8523200	Weak transcription	Fetal Stomach	stomach
36	chr9:8493200-8531200	Weak transcription	Fetal Brain Female	brain
37	chr9:8493600-8498400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:8493600-8499000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:8494000-8494600	Enhancers	Brain Hippocampus Middle	brain
40	chr9:8494200-8495400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:8494200-8531200	Weak transcription	Fetal Brain Male	brain
42	chr9:8494400-8494600	Enhancers	Brain Angular Gyrus	brain
43	chr9:8494400-8495000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:8494400-8495000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:8494400-8495000	Genic enhancers	Ovary	ovary

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