Variant report

Variant	rs16888695
Chromosome Location	chr8:117735099-117735100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117730565..117733333-chr8:117735015..117736708,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10109976	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1550856	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16888699	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867840	0.88[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28649280	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651059	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668628	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4289842	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs58836328	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59036101	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67676723	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983626	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014359	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs72681699	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388507	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823271	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829098	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832540	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837208	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838174	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693860	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16888695	C8orf53	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117722000-117735600	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:117722000-117740800	Weak transcription	NHLF	lung
3	chr8:117722400-117738800	Weak transcription	Small Intestine	intestine
4	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
5	chr8:117724600-117738800	Weak transcription	Psoas Muscle	Psoas
6	chr8:117726800-117735800	Weak transcription	HSMM	muscle
7	chr8:117728000-117740800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:117728000-117740800	Weak transcription	Osteobl	bone
9	chr8:117728600-117740400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:117728800-117739400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:117729000-117736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:117730800-117736800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:117731200-117736600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr8:117731200-117739400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:117731400-117737600	Weak transcription	Fetal Brain Male	brain
16	chr8:117731400-117739400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:117731400-117740200	ZNF genes & repeats	GM12878-XiMat	blood
18	chr8:117732000-117736400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr8:117732200-117735400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:117732600-117735400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr8:117732600-117735600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:117732600-117735800	ZNF genes & repeats	K562	blood
23	chr8:117732600-117736200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr8:117732600-117736600	ZNF genes & repeats	Dnd41	blood
25	chr8:117732600-117738200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:117732800-117738400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:117733000-117736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:117733000-117739800	Weak transcription	Fetal Heart	heart
29	chr8:117733000-117740800	Weak transcription	NHDF-Ad	bronchial
30	chr8:117733000-117742400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:117733600-117737000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:117733600-117737000	Strong transcription	Hela-S3	cervix
33	chr8:117733600-117737400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:117733600-117738400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr8:117733600-117740800	Weak transcription	Aorta	Aorta
36	chr8:117733600-117740800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:117733600-117741000	Weak transcription	HUVEC	blood vessel
38	chr8:117733600-117742400	Weak transcription	Right Ventricle	heart
39	chr8:117733600-117745000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:117733600-117745200	Weak transcription	Brain Anterior Caudate	brain
41	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
42	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
43	chr8:117733800-117736000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:117734000-117736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:117734000-117737200	Weak transcription	Liver	Liver
46	chr8:117734000-117737600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:117734000-117737800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:117734000-117739800	Weak transcription	Colonic Mucosa	Colon
49	chr8:117734000-117740600	Weak transcription	HMEC	breast
50	chr8:117734000-117742200	Weak transcription	NH-A	brain

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