Variant report

Variant	rs11781155
Chromosome Location	chr8:10917560-10917561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11250113	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11777486	0.88[AMR][1000 genomes]
rs11985603	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13251510	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409685	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28447601	0.81[ASN][1000 genomes]
rs34440473	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4326351	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4489292	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4841483	0.89[AMR][1000 genomes]
rs4841485	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62490742	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62490743	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6601554	0.88[ASN][1000 genomes]
rs6601555	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6983301	0.89[ASN][1000 genomes]
rs6987767	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7016414	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7016760	0.88[ASN][1000 genomes]
rs7462931	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7815958	0.88[ASN][1000 genomes]

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	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
3	esv3443449	chr8:10915967-10918515	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11781155	AF131215.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11781155	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs11781155	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10916400-10917600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr8:10916400-10917600	Active TSS	Brain Angular Gyrus	brain
3	chr8:10916400-10917600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:10916400-10917800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:10916400-10917800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr8:10916400-10918000	Bivalent Enhancer	Fetal Brain Male	brain
7	chr8:10916600-10917600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:10916600-10917600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:10916600-10917600	Bivalent/Poised TSS	NHEK	skin
10	chr8:10916600-10917800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:10916600-10918000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr8:10916800-10917600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr8:10916800-10917600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:10916800-10917800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:10916800-10917800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr8:10916800-10917800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:10916800-10918000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:10917000-10917600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
19	chr8:10917000-10917600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:10917000-10917800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:10917000-10917800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr8:10917000-10917800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr8:10917000-10918000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr8:10917000-10918400	Enhancers	Brain Hippocampus Middle	brain
25	chr8:10917000-10919400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:10917000-10926000	Weak transcription	Gastric	stomach
27	chr8:10917200-10917600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:10917200-10917600	Flanking Active TSS	HSMM	muscle
29	chr8:10917200-10917600	Flanking Active TSS	HSMMtube	muscle
30	chr8:10917400-10917600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:10917400-10917600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:10917400-10917600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr8:10917400-10917600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr8:10917400-10917600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:10917400-10917600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
36	chr8:10917400-10917600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:10917400-10917600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:10917400-10917600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:10917400-10917600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:10917400-10917600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:10917400-10917600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr8:10917400-10917600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr8:10917400-10917600	Enhancers	Colon Smooth Muscle	Colon
44	chr8:10917400-10917600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr8:10917400-10917600	Bivalent Enhancer	Fetal Lung	lung
46	chr8:10917400-10917600	Flanking Active TSS	GM12878-XiMat	blood
47	chr8:10917400-10917600	Bivalent Enhancer	NH-A	brain
48	chr8:10917400-10917800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
49	chr8:10917400-10917800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr8:10917400-10917800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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