Variant report

Variant	rs16930077
Chromosome Location	chr8:63920229-63920230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10086603	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10087307	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10093652	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10096151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10100534	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106587	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10107109	0.83[EUR][1000 genomes]
rs10481209	0.87[ASN][1000 genomes]
rs11786957	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995525	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929916	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16929920	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16929982	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16930023	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2043526	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736683	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28393982	0.84[ASN][1000 genomes]
rs28687189	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28731434	0.85[ASN][1000 genomes]
rs28760056	0.86[EUR][1000 genomes]
rs4509318	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58167727	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58909118	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61056009	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61594679	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs719235	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72656522	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72656527	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72656534	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72658314	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72658324	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72659840	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72659842	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72659846	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7834288	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7838752	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9298073	0.84[EUR][1000 genomes];0.82[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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63915600-63922200	Weak transcription	Fetal Kidney	kidney
3	chr8:63916800-63920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:63916800-63920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:63919200-63922800	Enhancers	Placenta	Placenta
6	chr8:63919400-63922600	Weak transcription	Thymus	Thymus
7	chr8:63919600-63924800	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:63919800-63920600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr8:63919800-63920600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr8:63919800-63921400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:63919800-63921400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:63919800-63921800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:63919800-63921800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:63919800-63922400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:63919800-63922400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:63919800-63922600	Enhancers	Fetal Intestine Large	intestine
17	chr8:63919800-63922800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:63919800-63922800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:63919800-63922800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:63919800-63922800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:63919800-63922800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:63919800-63922800	Enhancers	Esophagus	oesophagus
23	chr8:63919800-63922800	Enhancers	Fetal Muscle Leg	muscle
24	chr8:63919800-63923000	Enhancers	Primary T cells from cord blood	blood
25	chr8:63919800-63923000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:63919800-63923600	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:63919800-63924800	Enhancers	Fetal Intestine Small	intestine
28	chr8:63920000-63920400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr8:63920000-63920400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr8:63920000-63920400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr8:63920000-63920600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr8:63920000-63920800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:63920000-63921000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr8:63920000-63921400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
35	chr8:63920000-63922000	Enhancers	GM12878-XiMat	blood
36	chr8:63920000-63922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:63920000-63922800	Enhancers	Fetal Thymus	thymus
38	chr8:63920000-63922800	Enhancers	HMEC	breast
39	chr8:63920200-63920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:63920200-63920800	Active TSS	Liver	Liver
41	chr8:63920200-63921000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:63920200-63921000	Enhancers	HepG2	liver
43	chr8:63920200-63922800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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