Variant report

Variant	rs2466432
Chromosome Location	chr8:95877542-95877543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95833077..95835963-chr8:95876251..95878917,2	K562	blood:
2	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11025	1.00[AFR][1000 genomes]
rs12176630	1.00[AFR][1000 genomes]
rs2466431	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2467670	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2467678	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2554398	1.00[AMR][1000 genomes]
rs3110163	1.00[AMR][1000 genomes]
rs7760	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2466432	SNORA5B	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
7	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
8	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
9	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
11	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
12	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
14	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
16	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
18	chr8:95871400-95889600	Weak transcription	NHLF	lung
19	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
20	chr8:95871800-95877600	Weak transcription	Ovary	ovary
21	chr8:95872200-95878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:95872200-95880400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:95872400-95878600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
26	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
28	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
29	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:95874200-95878800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:95874200-95879200	Strong transcription	Osteobl	bone
32	chr8:95874200-95883400	Strong transcription	Liver	Liver
33	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:95874400-95878200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:95874400-95878600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:95874400-95879400	Strong transcription	Dnd41	blood
43	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:95874600-95879800	Strong transcription	K562	blood
48	chr8:95874600-95884200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:95874600-95886000	Strong transcription	Left Ventricle	heart
50	chr8:95874600-95888000	Strong transcription	Stomach Smooth Muscle	stomach

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