Variant report

Variant	rs4075359
Chromosome Location	chr8:9487813-9487814
allele	A/G
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	chr8:9486899..9489855-chr8:9491266..9493165,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10092751	0.84[AMR][1000 genomes]
rs10094989	0.91[CEU][hapmap]
rs10102170	0.90[CEU][hapmap]
rs10104032	0.88[CEU][hapmap]
rs10106040	0.88[CEU][hapmap]
rs10109026	0.86[JPT][hapmap]
rs10111376	0.88[CEU][hapmap]
rs11249934	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11785458	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12155819	0.95[CEU][hapmap]
rs12542457	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12542912	0.96[CEU][hapmap]
rs12545250	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs12547642	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12677507	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12682175	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13263409	0.87[YRI][hapmap]
rs13270518	0.84[YRI][hapmap]
rs13276086	0.86[CEU][hapmap]
rs1394	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33994795	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4128198	0.88[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs4129360	0.96[CEU][hapmap]
rs4422774	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4554469	0.83[EUR][1000 genomes]
rs4610751	0.82[CHB][hapmap]
rs4840426	0.91[JPT][hapmap]
rs4840437	0.87[CEU][hapmap]
rs4841196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6601338	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs6601340	0.91[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6982148	0.96[CEU][hapmap]
rs6990418	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs6994574	0.95[CEU][hapmap]
rs7004937	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs7461939	0.95[CEU][hapmap]
rs7822700	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7835002	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7840706	0.84[YRI][hapmap]
rs7846399	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9644704	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4075359	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:9473200-9489400	Weak transcription	HSMM	muscle
3	chr8:9473200-9490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:9473200-9491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:9473200-9491200	Weak transcription	HSMMtube	muscle
6	chr8:9473400-9490000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:9484400-9489000	Enhancers	Brain Substantia Nigra	brain
13	chr8:9484600-9488800	Weak transcription	NHDF-Ad	bronchial
14	chr8:9484600-9490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:9484800-9488800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
17	chr8:9485000-9495000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
19	chr8:9485200-9493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:9485600-9498200	Weak transcription	Ovary	ovary
21	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:9485800-9490800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
25	chr8:9486000-9488000	Enhancers	Stomach Mucosa	stomach
26	chr8:9486200-9494400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:9486400-9492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:9486400-9493400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:9486400-9494400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:9486600-9493400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:9486800-9494400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:9487000-9488000	Enhancers	HepG2	liver
34	chr8:9487200-9489200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:9487200-9500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:9487400-9489400	Weak transcription	Osteobl	bone
37	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:9487600-9490000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:9487800-9488200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:9487800-9488600	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:9487800-9488800	Enhancers	Brain Angular Gyrus	brain
42	chr8:9487800-9491000	Weak transcription	Brain Anterior Caudate	brain
43	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links