Variant report

Variant	rs4407841
Chromosome Location	chr8:10921761-10921762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10903337	1.00[ASN][1000 genomes]
rs11774266	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775254	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776637	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780798	1.00[ASN][1000 genomes]
rs13248300	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251528	1.00[ASN][1000 genomes]
rs13261031	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264636	1.00[ASN][1000 genomes]
rs13265533	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270982	1.00[ASN][1000 genomes]
rs4841484	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841486	0.83[EUR][1000 genomes]
rs4841487	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841491	0.81[EUR][1000 genomes]
rs6601556	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67841554	1.00[ASN][1000 genomes]
rs7821839	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4407841	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10917000-10926000	Weak transcription	Gastric	stomach
2	chr8:10917400-10923400	Weak transcription	Psoas Muscle	Psoas
3	chr8:10917400-10923400	Weak transcription	Right Atrium	heart
4	chr8:10917600-10923600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10917800-10924400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:10918000-10925000	Weak transcription	Brain Anterior Caudate	brain
7	chr8:10918200-10924200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:10918800-10922000	Enhancers	Brain Germinal Matrix	brain
9	chr8:10919400-10922000	Enhancers	Fetal Muscle Leg	muscle
10	chr8:10919600-10924200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:10919800-10923200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:10919800-10924000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:10920000-10923200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:10920000-10924400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:10920400-10923200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:10921000-10921800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:10921000-10922000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr8:10921000-10922000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:10921000-10922400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:10921000-10922600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:10921000-10924200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:10921200-10921800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:10921200-10922000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:10921200-10922400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:10921400-10921800	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:10921400-10921800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr8:10921400-10921800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:10921400-10921800	Enhancers	Brain Substantia Nigra	brain
29	chr8:10921400-10921800	Bivalent Enhancer	GM12878-XiMat	blood
30	chr8:10921400-10921800	Bivalent Enhancer	HUVEC	blood vessel
31	chr8:10921400-10922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:10921400-10922000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr8:10921400-10922000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:10921400-10922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:10921400-10922000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:10921400-10922400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:10921400-10922400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:10921400-10922800	Enhancers	HSMMtube	muscle
39	chr8:10921600-10921800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:10921600-10921800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:10921600-10921800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:10921600-10921800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:10921600-10921800	Enhancers	Brain Hippocampus Middle	brain
44	chr8:10921600-10921800	Enhancers	NH-A	brain
45	chr8:10921600-10921800	Enhancers	NHEK	skin
46	chr8:10921600-10922000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr8:10921600-10922000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:10921600-10922000	Flanking Active TSS	HSMM	muscle
49	chr8:10921600-10923800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:10921600-10924200	Weak transcription	H1 Cell Line	embryonic stem cell

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