Variant report

Variant	rs33972793
Chromosome Location	chr8:9494732-9494733
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9485608..9489855-chr8:9491266..9494747,4	K562	blood:
2	chr8:9494330..9496133-chr8:9501405..9503698,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12056942	0.85[ASN][1000 genomes]
rs13267242	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13275502	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543903	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35989911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4319098	0.81[AFR][1000 genomes]
rs4380943	0.81[AFR][1000 genomes]
rs4455833	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4496970	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998584	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7015700	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv610225	chr8:9493701-9499605	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv437043	chr8:9493701-9501447	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:9485000-9495000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
8	chr8:9485600-9498200	Weak transcription	Ovary	ovary
9	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
12	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:9487200-9500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:9491200-9502800	Weak transcription	Aorta	Aorta
17	chr8:9491400-9504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:9491400-9509000	Weak transcription	HSMM	muscle
20	chr8:9492200-9508000	Weak transcription	NH-A	brain
21	chr8:9492400-9495600	Weak transcription	NHDF-Ad	bronchial
22	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:9493400-9495000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:9494000-9494800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:9494000-9495000	Enhancers	Brain Substantia Nigra	brain
27	chr8:9494200-9494800	Active TSS	GM12878-XiMat	blood
28	chr8:9494200-9495200	Enhancers	Brain Anterior Caudate	brain
29	chr8:9494400-9495200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney

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